Canonical Allele Identifier: CA371294946

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60854452A>G , CM000670.2:g.60854452A>G	GRCh38
NC_000008.10:g.61767011A>G , CM000670.1:g.61767011A>G	GRCh37
NC_000008.9:g.61929565A>G	NCBI36
NG_007009.1:g.180673A>G , LRG_176:g.180673A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6775+952A>G	ENSP00000512218.1:n.6775+952A>G
ENST00000423902.7:c.6865A>G MANE Select	ENSP00000392028.1:p.Met2289Val
ENST00000423902.6:c.6865A>G	ENSP00000392028.1:p.Met2289Val
ENST00000524602.5:c.1717-7777A>G	ENSP00000437061.1:n.1717-7777A>G
NM_001316690.1:c.1717-7777A>G	NP_001303619.1:n.1717-7777A>G
NM_017780.3:c.6865A>G	NP_060250.2:p.Met2289Val
XM_011517553.1:c.6955A>G	XP_011515855.1:p.Met2319Val
XM_011517554.1:c.6955A>G	XP_011515856.1:p.Met2319Val
XM_011517555.1:c.6952A>G	XP_011515857.1:p.Met2318Val
XM_011517556.1:c.6955A>G	XP_011515858.1:p.Met2319Val
XM_011517557.1:c.4942A>G	XP_011515859.1:p.Met1648Val
XM_011517558.1:c.4492A>G	XP_011515860.1:p.Met1498Val
XM_011517559.1:c.3700A>G	XP_011515861.1:p.Met1234Val
XM_011517553.2:c.6955A>G	XP_011515855.1:p.Met2319Val
XM_011517554.3:c.6955A>G	XP_011515856.1:p.Met2319Val
XM_011517555.2:c.6952A>G	XP_011515857.1:p.Met2318Val
XM_017013612.1:c.6955A>G	XP_016869101.1:p.Met2319Val
XM_017013613.1:c.6862A>G	XP_016869102.1:p.Met2288Val
NM_017780.4:c.6865A>G MANE Select	NP_060250.2:p.Met2289Val