Canonical Allele Identifier: CA439245928
Gene: GABRB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.47408940C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406923C>G , CM000666.2:g.47406923C>G GRCh38
NC_000004.11:g.47408940C>G , CM000666.1:g.47408940C>G GRCh37
NC_000004.10:g.47103697C>G NCBI36
NG_051831.1:g.380646C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1077C>G MANE Select ENSP00000295454.3:p.Val359=
ENST00000295454.7:c.1077C>G ENSP00000295454.3:p.Val359=
NM_000812.3:c.1077C>G NP_000803.2:p.Val359=
XM_011513678.1:c.1056C>G XP_011511980.1:p.Val352=
XM_017007985.1:c.426C>G XP_016863474.1:p.Val142=
XM_024453976.1:c.978C>G XP_024309744.1:p.Val326=
XM_024453977.1:c.978C>G XP_024309745.1:p.Val326=
XM_024453978.1:c.978C>G XP_024309746.1:p.Val326=
NM_000812.4:c.1077C>G MANE Select NP_000803.2:p.Val359=