Canonical Allele Identifier: CA350780520
Community Standard Title: NM_005235.3(ERBB4):c.3422C>T (p.Pro1141Leu)
Gene: ERBB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.211386912G>A , CM000664.2:g.211386912G>A GRCh38
NC_000002.11:g.212251637G>A , CM000664.1:g.212251637G>A GRCh37
NC_000002.10:g.211959882G>A NCBI36
NG_011805.1:g.1156716C>T
NG_011805.2:g.1156717C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005235.3:c.3422C>T MANE Select NP_005226.1:p.Pro1141Leu
ENST00000342788.9:c.3422C>T MANE Select ENSP00000342235.4:p.Pro1141Leu
NM_001042599.1:c.3374C>T NP_001036064.1:p.Pro1125Leu
NM_005235.2:c.3422C>T NP_005226.1:p.Pro1141Leu
ENST00000260943.11:c.3344C>T ENSP00000260943.7:p.Pro1115Leu
ENST00000342788.8:c.3422C>T ENSP00000342235.4:p.Pro1141Leu
ENST00000402597.5:c.3245C>T ENSP00000385565.2:p.Pro1082Leu
ENST00000402597.6:c.3296C>T ENSP00000385565.3:p.Pro1099Leu
ENST00000436443.5:c.3374C>T ENSP00000403204.1:p.Pro1125Leu
XM_005246375.1:c.3419C>T XP_005246432.1:p.Pro1140Leu
XM_005246376.1:c.3392C>T XP_005246433.1:p.Pro1131Leu
XM_005246376.3:c.3392C>T XP_005246433.1:p.Pro1131Leu
XM_005246377.1:c.3344C>T XP_005246434.1:p.Pro1115Leu
XM_005246377.3:c.3344C>T XP_005246434.1:p.Pro1115Leu
XM_006712364.1:c.3467C>T XP_006712427.1:p.Pro1156Leu
XM_006712364.3:c.3467C>T XP_006712427.1:p.Pro1156Leu
XM_017003577.2:c.3545C>T XP_016859066.1:p.Pro1182Leu
XM_017003578.2:c.3500C>T XP_016859067.1:p.Pro1167Leu
XM_017003579.2:c.3497C>T XP_016859068.1:p.Pro1166Leu
XM_017003580.2:c.3470C>T XP_016859069.1:p.Pro1157Leu
XM_017003581.2:c.3452C>T XP_016859070.1:p.Pro1151Leu
XM_017003582.1:c.2846C>T XP_016859071.1:p.Pro949Leu