Canonical Allele Identifier: CA4760568

Gene: CHD7

Linked Data

• dbSNP Id: rs763634286
• ExAC: 8:61765580 A / G
• gnomAD v2: 8-61765580-A-G
• gnomAD v4: 8-60853021-A-G
• MyVariant Identifiers: chr8:g.61765580A>G (hg19) ; chr8:g.60853021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853021A>G , CM000670.2:g.60853021A>G	GRCh38
NC_000008.10:g.61765580A>G , CM000670.1:g.61765580A>G	GRCh37
NC_000008.9:g.61928134A>G	NCBI36
NG_007009.1:g.179242A>G , LRG_176:g.179242A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.6296A>G	ENSP00000512218.1:p.Asp2099Gly
ENST00000423902.7:c.6296A>G MANE Select	ENSP00000392028.1:p.Asp2099Gly
ENST00000423902.6:c.6296A>G	ENSP00000392028.1:p.Asp2099Gly
ENST00000524602.5:c.1717-9208A>G	ENSP00000437061.1:n.1717-9208A>G
NM_001316690.1:c.1717-9208A>G	NP_001303619.1:n.1717-9208A>G
NM_017780.3:c.6296A>G	NP_060250.2:p.Asp2099Gly
XM_011517553.1:c.6386A>G	XP_011515855.1:p.Asp2129Gly
XM_011517554.1:c.6386A>G	XP_011515856.1:p.Asp2129Gly
XM_011517555.1:c.6386A>G	XP_011515857.1:p.Asp2129Gly
XM_011517556.1:c.6386A>G	XP_011515858.1:p.Asp2129Gly
XM_011517557.1:c.4373A>G	XP_011515859.1:p.Asp1458Gly
XM_011517558.1:c.3923A>G	XP_011515860.1:p.Asp1308Gly
XM_011517559.1:c.3131A>G	XP_011515861.1:p.Asp1044Gly
XM_011517553.2:c.6386A>G	XP_011515855.1:p.Asp2129Gly
XM_011517554.3:c.6386A>G	XP_011515856.1:p.Asp2129Gly
XM_011517555.2:c.6386A>G	XP_011515857.1:p.Asp2129Gly
XM_017013612.1:c.6386A>G	XP_016869101.1:p.Asp2129Gly
XM_017013613.1:c.6296A>G	XP_016869102.1:p.Asp2099Gly
NM_017780.4:c.6296A>G MANE Select	NP_060250.2:p.Asp2099Gly