Canonical Allele Identifier: CA460846513

Gene: CHD7

Linked Data

• dbSNP Id: rs1408461463
• gnomAD v3: 8-60861023-T-C
• gnomAD v4: 8-60861023-T-C
• MyVariant Identifiers: chr8:g.61773582T>C (hg19) ; chr8:g.60861023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861023T>C , CM000670.2:g.60861023T>C	GRCh38
NC_000008.10:g.61773582T>C , CM000670.1:g.61773582T>C	GRCh37
NC_000008.9:g.61936136T>C	NCBI36
NG_007009.1:g.187244T>C , LRG_176:g.187244T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.904T>C
ENST00000695851.1:n.108T>C
ENST00000695853.1:c.*787T>C	ENSP00000512218.1:n.*787T>C
ENST00000423902.7:c.7728T>C MANE Select	ENSP00000392028.1:p.Asp2576=
ENST00000423902.6:c.7728T>C	ENSP00000392028.1:p.Asp2576=
ENST00000524602.5:c.1717-1206T>C	ENSP00000437061.1:n.1717-1206T>C
ENST00000531695.1:n.152T>C
ENST00000618450.1:n.120T>C
NM_001316690.1:c.1717-1206T>C	NP_001303619.1:n.1717-1206T>C
NM_017780.3:c.7728T>C	NP_060250.2:p.Asp2576=
XM_011517553.1:c.7818T>C	XP_011515855.1:p.Asp2606=
XM_011517554.1:c.7818T>C	XP_011515856.1:p.Asp2606=
XM_011517555.1:c.7815T>C	XP_011515857.1:p.Asp2605=
XM_011517556.1:c.7699-1173T>C	XP_011515858.1:n.7699-1173T>C
XM_011517557.1:c.5805T>C	XP_011515859.1:p.Asp1935=
XM_011517558.1:c.5355T>C	XP_011515860.1:p.Asp1785=
XM_011517559.1:c.4563T>C	XP_011515861.1:p.Asp1521=
XM_011517553.2:c.7818T>C	XP_011515855.1:p.Asp2606=
XM_011517554.3:c.7818T>C	XP_011515856.1:p.Asp2606=
XM_011517555.2:c.7815T>C	XP_011515857.1:p.Asp2605=
XM_017013612.1:c.7818T>C	XP_016869101.1:p.Asp2606=
XM_017013613.1:c.7725T>C	XP_016869102.1:p.Asp2575=
NM_017780.4:c.7728T>C MANE Select	NP_060250.2:p.Asp2576=