Canonical Allele Identifier: CA371326036

Gene: CHD7

Linked Data

• gnomAD v4: 8-60853377-C-A
• MyVariant Identifiers: chr8:g.61765936C>A (hg19) ; chr8:g.60853377C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853377C>A , CM000670.2:g.60853377C>A	GRCh38
NC_000008.10:g.61765936C>A , CM000670.1:g.61765936C>A	GRCh37
NC_000008.9:g.61928490C>A	NCBI36
NG_007009.1:g.179598C>A , LRG_176:g.179598C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6652C>A	ENSP00000512218.1:p.Leu2218Met
ENST00000423902.7:c.6652C>A MANE Select	ENSP00000392028.1:p.Leu2218Met
ENST00000423902.6:c.6652C>A	ENSP00000392028.1:p.Leu2218Met
ENST00000524602.5:c.1717-8852C>A	ENSP00000437061.1:n.1717-8852C>A
NM_001316690.1:c.1717-8852C>A	NP_001303619.1:n.1717-8852C>A
NM_017780.3:c.6652C>A	NP_060250.2:p.Leu2218Met
XM_011517553.1:c.6742C>A	XP_011515855.1:p.Leu2248Met
XM_011517554.1:c.6742C>A	XP_011515856.1:p.Leu2248Met
XM_011517555.1:c.6742C>A	XP_011515857.1:p.Leu2248Met
XM_011517556.1:c.6742C>A	XP_011515858.1:p.Leu2248Met
XM_011517557.1:c.4729C>A	XP_011515859.1:p.Leu1577Met
XM_011517558.1:c.4279C>A	XP_011515860.1:p.Leu1427Met
XM_011517559.1:c.3487C>A	XP_011515861.1:p.Leu1163Met
XM_011517553.2:c.6742C>A	XP_011515855.1:p.Leu2248Met
XM_011517554.3:c.6742C>A	XP_011515856.1:p.Leu2248Met
XM_011517555.2:c.6742C>A	XP_011515857.1:p.Leu2248Met
XM_017013612.1:c.6742C>A	XP_016869101.1:p.Leu2248Met
XM_017013613.1:c.6652C>A	XP_016869102.1:p.Leu2218Met
NM_017780.4:c.6652C>A MANE Select	NP_060250.2:p.Leu2218Met