Canonical Allele Identifier: CA4760982

Gene: CHD7

Linked Data

• dbSNP Id: rs758898311
• ExAC: 8:61777784 G / C
• gnomAD v2: 8-61777784-G-C
• gnomAD v4: 8-60865225-G-C
• MyVariant Identifiers: chr8:g.61777784G>C (hg19) ; chr8:g.60865225G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865225G>C , CM000670.2:g.60865225G>C	GRCh38
NC_000008.10:g.61777784G>C , CM000670.1:g.61777784G>C	GRCh37
NC_000008.9:g.61940338G>C	NCBI36
NG_007009.1:g.191446G>C , LRG_176:g.191446G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1462G>C
ENST00000695852.1:n.393G>C
ENST00000695853.1:c.*1345G>C	ENSP00000512218.1:n.*1345G>C
ENST00000423902.7:c.8286G>C MANE Select	ENSP00000392028.1:p.Gln2762His
ENST00000423902.6:c.8286G>C	ENSP00000392028.1:p.Gln2762His
ENST00000524602.5:c.2139G>C	ENSP00000437061.1:p.Gln713His
ENST00000528280.1:n.332G>C
NM_001316690.1:c.2139G>C	NP_001303619.1:p.Gln713His
NM_017780.3:c.8286G>C	NP_060250.2:p.Gln2762His
XM_011517553.1:c.8376G>C	XP_011515855.1:p.Gln2792His
XM_011517554.1:c.8376G>C	XP_011515856.1:p.Gln2792His
XM_011517555.1:c.8373G>C	XP_011515857.1:p.Gln2791His
XM_011517556.1:c.8154G>C	XP_011515858.1:p.Gln2718His
XM_011517557.1:c.6363G>C	XP_011515859.1:p.Gln2121His
XM_011517558.1:c.5913G>C	XP_011515860.1:p.Gln1971His
XM_011517559.1:c.5121G>C	XP_011515861.1:p.Gln1707His
XM_011517553.2:c.8376G>C	XP_011515855.1:p.Gln2792His
XM_011517554.3:c.8376G>C	XP_011515856.1:p.Gln2792His
XM_011517555.2:c.8373G>C	XP_011515857.1:p.Gln2791His
XM_017013612.1:c.8376G>C	XP_016869101.1:p.Gln2792His
XM_017013613.1:c.8283G>C	XP_016869102.1:p.Gln2761His
NM_017780.4:c.8286G>C MANE Select	NP_060250.2:p.Gln2762His