Canonical Allele Identifier: CA371309568

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2200810
• ClinVar RCV Id: RCV002638400
• dbSNP Id: rs1261230568
• gnomAD v2: 8-61777952-C-A
• gnomAD v4: 8-60865393-C-A
• MyVariant Identifiers: chr8:g.61777952C>A (hg19) ; chr8:g.60865393C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865393C>A , CM000670.2:g.60865393C>A	GRCh38
NC_000008.10:g.61777952C>A , CM000670.1:g.61777952C>A	GRCh37
NC_000008.9:g.61940506C>A	NCBI36
NG_007009.1:g.191614C>A , LRG_176:g.191614C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.1630C>A
ENST00000695852.1:n.561C>A
ENST00000695853.1:c.*1513C>A	ENSP00000512218.1:n.*1513C>A
ENST00000423902.7:c.8454C>A MANE Select	ENSP00000392028.1:p.Asn2818Lys
ENST00000423902.6:c.8454C>A	ENSP00000392028.1:p.Asn2818Lys
ENST00000524602.5:c.2307C>A	ENSP00000437061.1:p.Asn769Lys
ENST00000528280.1:n.500C>A
NM_001316690.1:c.2307C>A	NP_001303619.1:p.Asn769Lys
NM_017780.3:c.8454C>A	NP_060250.2:p.Asn2818Lys
XM_011517553.1:c.8544C>A	XP_011515855.1:p.Asn2848Lys
XM_011517554.1:c.8544C>A	XP_011515856.1:p.Asn2848Lys
XM_011517555.1:c.8541C>A	XP_011515857.1:p.Asn2847Lys
XM_011517556.1:c.8322C>A	XP_011515858.1:p.Asn2774Lys
XM_011517557.1:c.6531C>A	XP_011515859.1:p.Asn2177Lys
XM_011517558.1:c.6081C>A	XP_011515860.1:p.Asn2027Lys
XM_011517559.1:c.5289C>A	XP_011515861.1:p.Asn1763Lys
XM_011517553.2:c.8544C>A	XP_011515855.1:p.Asn2848Lys
XM_011517554.3:c.8544C>A	XP_011515856.1:p.Asn2848Lys
XM_011517555.2:c.8541C>A	XP_011515857.1:p.Asn2847Lys
XM_017013612.1:c.8544C>A	XP_016869101.1:p.Asn2848Lys
XM_017013613.1:c.8451C>A	XP_016869102.1:p.Asn2817Lys
NM_017780.4:c.8454C>A MANE Select	NP_060250.2:p.Asn2818Lys