Canonical Allele Identifier: CA371307229
Gene: CHD7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60865049C>G , CM000670.2:g.60865049C>G GRCh38
NC_000008.10:g.61777608C>G , CM000670.1:g.61777608C>G GRCh37
NC_000008.9:g.61940162C>G NCBI36
NG_007009.1:g.191270C>G , LRG_176:g.191270C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.1286C>G
ENST00000695852.1:n.217C>G
ENST00000695853.1:c.*1169C>G ENSP00000512218.1:n.*1169C>G
ENST00000423902.7:c.8110C>G MANE Select ENSP00000392028.1:p.Leu2704Val
ENST00000423902.6:c.8110C>G ENSP00000392028.1:p.Leu2704Val
ENST00000524602.5:c.1963C>G ENSP00000437061.1:p.Leu655Val
ENST00000528280.1:n.156C>G
ENST00000532149.1:n.532C>G
ENST00000618450.1:n.4146C>G
NM_001316690.1:c.1963C>G NP_001303619.1:p.Leu655Val
NM_017780.3:c.8110C>G NP_060250.2:p.Leu2704Val
XM_011517553.1:c.8200C>G XP_011515855.1:p.Leu2734Val
XM_011517554.1:c.8200C>G XP_011515856.1:p.Leu2734Val
XM_011517555.1:c.8197C>G XP_011515857.1:p.Leu2733Val
XM_011517556.1:c.7978C>G XP_011515858.1:p.Leu2660Val
XM_011517557.1:c.6187C>G XP_011515859.1:p.Leu2063Val
XM_011517558.1:c.5737C>G XP_011515860.1:p.Leu1913Val
XM_011517559.1:c.4945C>G XP_011515861.1:p.Leu1649Val
XM_011517553.2:c.8200C>G XP_011515855.1:p.Leu2734Val
XM_011517554.3:c.8200C>G XP_011515856.1:p.Leu2734Val
XM_011517555.2:c.8197C>G XP_011515857.1:p.Leu2733Val
XM_017013612.1:c.8200C>G XP_016869101.1:p.Leu2734Val
XM_017013613.1:c.8107C>G XP_016869102.1:p.Leu2703Val
NM_017780.4:c.8110C>G MANE Select NP_060250.2:p.Leu2704Val
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