Canonical Allele Identifier: CA4759573

Gene: CHD7

Linked Data

• dbSNP Id: rs760971730
• ExAC: 8:61693694 A / G
• gnomAD v2: 8-61693694-A-G
• gnomAD v4: 8-60781135-A-G
• MyVariant Identifiers: chr8:g.61693694A>G (hg19) ; chr8:g.60781135A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60781135A>G , CM000670.2:g.60781135A>G	GRCh38
NC_000008.10:g.61693694A>G , CM000670.1:g.61693694A>G	GRCh37
NC_000008.9:g.61856248A>G	NCBI36
NG_007009.1:g.107356A>G , LRG_176:g.107356A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695848.1:n.2314A>G
ENST00000695849.1:n.2314A>G
ENST00000695853.1:c.1801A>G	ENSP00000512218.1:p.Lys601Glu
ENST00000700671.1:c.1801A>G	ENSP00000515139.1:p.Lys601Glu
ENST00000423902.7:c.1801A>G MANE Select	ENSP00000392028.1:p.Lys601Glu
ENST00000423902.6:c.1801A>G	ENSP00000392028.1:p.Lys601Glu
ENST00000524602.5:c.1716+85A>G	ENSP00000437061.1:n.1716+85A>G
ENST00000525508.1:c.1801A>G	ENSP00000436027.1:p.Lys601Glu
ENST00000527900.1:c.117+85A>G	ENSP00000433336.1:n.117+85A>G
NM_001316690.1:c.1716+85A>G	NP_001303619.1:n.1716+85A>G
NM_017780.3:c.1801A>G	NP_060250.2:p.Lys601Glu
XM_011517553.1:c.1801A>G	XP_011515855.1:p.Lys601Glu
XM_011517554.1:c.1801A>G	XP_011515856.1:p.Lys601Glu
XM_011517555.1:c.1801A>G	XP_011515857.1:p.Lys601Glu
XM_011517556.1:c.1801A>G	XP_011515858.1:p.Lys601Glu
XM_011517560.1:c.1801A>G	XP_011515862.1:p.Lys601Glu
XM_011517553.2:c.1801A>G	XP_011515855.1:p.Lys601Glu
XM_011517554.3:c.1801A>G	XP_011515856.1:p.Lys601Glu
XM_011517555.2:c.1801A>G	XP_011515857.1:p.Lys601Glu
XM_011517560.2:c.1801A>G	XP_011515862.1:p.Lys601Glu
XM_017013612.1:c.1801A>G	XP_016869101.1:p.Lys601Glu
XM_017013613.1:c.1801A>G	XP_016869102.1:p.Lys601Glu
NM_017780.4:c.1801A>G MANE Select	NP_060250.2:p.Lys601Glu