Canonical Allele Identifier: CA240765

Gene: CHD7

Linked Data

• ClinVar Variation Id: 194665
• ClinVar RCV Id: RCV000175090 ; RCV000531900 ; RCV001162409 ; RCV002516660 ; RCV003422067
• dbSNP Id: rs377535841
• ExAC: 8:61748826 T / C
• gnomAD v2: 8-61748826-T-C
• gnomAD v3: 8-60836267-T-C
• gnomAD v4: 8-60836267-T-C
• MyVariant Identifiers: chr8:g.61748826T>C (hg19) ; chr8:g.60836267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60836267T>C , CM000670.2:g.60836267T>C	GRCh38
NC_000008.10:g.61748826T>C , CM000670.1:g.61748826T>C	GRCh37
NC_000008.9:g.61911380T>C	NCBI36
NG_007009.1:g.162488T>C , LRG_176:g.162488T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.3973T>C	ENSP00000512218.1:p.Tyr1325His
ENST00000423902.7:c.3973T>C MANE Select	ENSP00000392028.1:p.Tyr1325His
ENST00000423902.6:c.3973T>C	ENSP00000392028.1:p.Tyr1325His
ENST00000524602.5:c.1717-25962T>C	ENSP00000437061.1:n.1717-25962T>C
NM_001316690.1:c.1717-25962T>C	NP_001303619.1:n.1717-25962T>C
NM_017780.3:c.3973T>C	NP_060250.2:p.Tyr1325His
XM_011517553.1:c.3973T>C	XP_011515855.1:p.Tyr1325His
XM_011517554.1:c.3973T>C	XP_011515856.1:p.Tyr1325His
XM_011517555.1:c.3973T>C	XP_011515857.1:p.Tyr1325His
XM_011517556.1:c.3973T>C	XP_011515858.1:p.Tyr1325His
XM_011517557.1:c.1960T>C	XP_011515859.1:p.Tyr654His
XM_011517558.1:c.1510T>C	XP_011515860.1:p.Tyr504His
XM_011517559.1:c.718T>C	XP_011515861.1:p.Tyr240His
XM_011517560.1:c.3973T>C	XP_011515862.1:p.Tyr1325His
XM_011517553.2:c.3973T>C	XP_011515855.1:p.Tyr1325His
XM_011517554.3:c.3973T>C	XP_011515856.1:p.Tyr1325His
XM_011517555.2:c.3973T>C	XP_011515857.1:p.Tyr1325His
XM_011517560.2:c.3973T>C	XP_011515862.1:p.Tyr1325His
XM_017013612.1:c.3973T>C	XP_016869101.1:p.Tyr1325His
XM_017013613.1:c.3973T>C	XP_016869102.1:p.Tyr1325His
NM_017780.4:c.3973T>C MANE Select	NP_060250.2:p.Tyr1325His