Canonical Allele Identifier: CA148873

Gene: CHD7

Linked Data

• ClinVar Variation Id: 95802
• ClinVar RCV Id: RCV000081848 ; RCV000351247 ; RCV000405798 ; RCV000711196 ; RCV002311670
• dbSNP Id: rs2068096
• ExAC: 8:61765560 G / A
• gnomAD v2: 8-61765560-G-A
• gnomAD v3: 8-60853001-G-A
• gnomAD v4: 8-60853001-G-A
• MyVariant Identifiers: chr8:g.61765560G>A (hg19) ; chr8:g.60853001G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853001G>A , CM000670.2:g.60853001G>A	GRCh38
NC_000008.10:g.61765560G>A , CM000670.1:g.61765560G>A	GRCh37
NC_000008.9:g.61928114G>A	NCBI36
NG_007009.1:g.179222G>A , LRG_176:g.179222G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6276G>A	ENSP00000512218.1:p.Glu2092=
ENST00000423902.7:c.6276G>A MANE Select	ENSP00000392028.1:p.Glu2092=
ENST00000423902.6:c.6276G>A	ENSP00000392028.1:p.Glu2092=
ENST00000524602.5:c.1717-9228G>A	ENSP00000437061.1:n.1717-9228G>A
NM_001316690.1:c.1717-9228G>A	NP_001303619.1:n.1717-9228G>A
NM_017780.3:c.6276G>A	NP_060250.2:p.Glu2092=
XM_011517553.1:c.6366G>A	XP_011515855.1:p.Glu2122=
XM_011517554.1:c.6366G>A	XP_011515856.1:p.Glu2122=
XM_011517555.1:c.6366G>A	XP_011515857.1:p.Glu2122=
XM_011517556.1:c.6366G>A	XP_011515858.1:p.Glu2122=
XM_011517557.1:c.4353G>A	XP_011515859.1:p.Glu1451=
XM_011517558.1:c.3903G>A	XP_011515860.1:p.Glu1301=
XM_011517559.1:c.3111G>A	XP_011515861.1:p.Glu1037=
XM_011517553.2:c.6366G>A	XP_011515855.1:p.Glu2122=
XM_011517554.3:c.6366G>A	XP_011515856.1:p.Glu2122=
XM_011517555.2:c.6366G>A	XP_011515857.1:p.Glu2122=
XM_017013612.1:c.6366G>A	XP_016869101.1:p.Glu2122=
XM_017013613.1:c.6276G>A	XP_016869102.1:p.Glu2092=
NM_017780.4:c.6276G>A MANE Select	NP_060250.2:p.Glu2092=