Canonical Allele Identifier: CA461105848

Gene: CHD7

Linked Data

• dbSNP Id: rs1177304422
• gnomAD v2: 8-61777733-G-A
• gnomAD v4: 8-60865174-G-A
• MyVariant Identifiers: chr8:g.61777733G>A (hg19) ; chr8:g.60865174G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865174G>A , CM000670.2:g.60865174G>A	GRCh38
NC_000008.10:g.61777733G>A , CM000670.1:g.61777733G>A	GRCh37
NC_000008.9:g.61940287G>A	NCBI36
NG_007009.1:g.191395G>A , LRG_176:g.191395G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1411G>A
ENST00000695852.1:n.342G>A
ENST00000695853.1:c.*1294G>A	ENSP00000512218.1:n.*1294G>A
ENST00000423902.7:c.8235G>A MANE Select	ENSP00000392028.1:p.Leu2745=
ENST00000423902.6:c.8235G>A	ENSP00000392028.1:p.Leu2745=
ENST00000524602.5:c.2088G>A	ENSP00000437061.1:p.Leu696=
ENST00000528280.1:n.281G>A
NM_001316690.1:c.2088G>A	NP_001303619.1:p.Leu696=
NM_017780.3:c.8235G>A	NP_060250.2:p.Leu2745=
XM_011517553.1:c.8325G>A	XP_011515855.1:p.Leu2775=
XM_011517554.1:c.8325G>A	XP_011515856.1:p.Leu2775=
XM_011517555.1:c.8322G>A	XP_011515857.1:p.Leu2774=
XM_011517556.1:c.8103G>A	XP_011515858.1:p.Leu2701=
XM_011517557.1:c.6312G>A	XP_011515859.1:p.Leu2104=
XM_011517558.1:c.5862G>A	XP_011515860.1:p.Leu1954=
XM_011517559.1:c.5070G>A	XP_011515861.1:p.Leu1690=
XM_011517553.2:c.8325G>A	XP_011515855.1:p.Leu2775=
XM_011517554.3:c.8325G>A	XP_011515856.1:p.Leu2775=
XM_011517555.2:c.8322G>A	XP_011515857.1:p.Leu2774=
XM_017013612.1:c.8325G>A	XP_016869101.1:p.Leu2775=
XM_017013613.1:c.8232G>A	XP_016869102.1:p.Leu2744=
NM_017780.4:c.8235G>A MANE Select	NP_060250.2:p.Leu2745=