Canonical Allele Identifier: CA582403599

Gene: CHD7

Linked Data

• dbSNP Id: rs1249181181
• gnomAD v2: 8-61768978-T-A
• gnomAD v4: 8-60856419-T-A
• MyVariant Identifiers: chr8:g.61768978T>A (hg19) ; chr8:g.60856419T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856419T>A , CM000670.2:g.60856419T>A	GRCh38
NC_000008.10:g.61768978T>A , CM000670.1:g.61768978T>A	GRCh37
NC_000008.9:g.61931532T>A	NCBI36
NG_007009.1:g.182640T>A , LRG_176:g.182640T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.341-26T>A
ENST00000695853.1:c.*224-26T>A	ENSP00000512218.1:n.*224-26T>A
ENST00000423902.7:c.7165-26T>A MANE Select	ENSP00000392028.1:n.7165-26T>A
ENST00000423902.6:c.7165-26T>A	ENSP00000392028.1:n.7165-26T>A
ENST00000524602.5:c.1717-5810T>A	ENSP00000437061.1:n.1717-5810T>A
ENST00000529472.1:n.346-26T>A
NM_001316690.1:c.1717-5810T>A	NP_001303619.1:n.1717-5810T>A
NM_017780.3:c.7165-26T>A	NP_060250.2:n.7165-26T>A
XM_011517553.1:c.7255-26T>A	XP_011515855.1:n.7255-26T>A
XM_011517554.1:c.7255-26T>A	XP_011515856.1:n.7255-26T>A
XM_011517555.1:c.7252-26T>A	XP_011515857.1:n.7252-26T>A
XM_011517556.1:c.7255-26T>A	XP_011515858.1:n.7255-26T>A
XM_011517557.1:c.5242-26T>A	XP_011515859.1:n.5242-26T>A
XM_011517558.1:c.4792-26T>A	XP_011515860.1:n.4792-26T>A
XM_011517559.1:c.4000-26T>A	XP_011515861.1:n.4000-26T>A
XM_011517553.2:c.7255-26T>A	XP_011515855.1:n.7255-26T>A
XM_011517554.3:c.7255-26T>A	XP_011515856.1:n.7255-26T>A
XM_011517555.2:c.7252-26T>A	XP_011515857.1:n.7252-26T>A
XM_017013612.1:c.7255-26T>A	XP_016869101.1:n.7255-26T>A
XM_017013613.1:c.7162-26T>A	XP_016869102.1:n.7162-26T>A
NM_017780.4:c.7165-26T>A MANE Select	NP_060250.2:n.7165-26T>A