Canonical Allele Identifier: CA4760965

Gene: CHD7

Linked Data

• ClinVar Variation Id: 498865
• ClinVar RCV Id: RCV000594987 ; RCV001438468 ; RCV003962676
• dbSNP Id: rs534427466
• ExAC: 8:61777691 C / T
• gnomAD v2: 8-61777691-C-T
• gnomAD v3: 8-60865132-C-T
• gnomAD v4: 8-60865132-C-T
• COSMIC: COSM4635618
• MyVariant Identifiers: chr8:g.61777691C>T (hg19) ; chr8:g.60865132C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865132C>T , CM000670.2:g.60865132C>T	GRCh38
NC_000008.10:g.61777691C>T , CM000670.1:g.61777691C>T	GRCh37
NC_000008.9:g.61940245C>T	NCBI36
NG_007009.1:g.191353C>T , LRG_176:g.191353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1369C>T
ENST00000695852.1:n.300C>T
ENST00000695853.1:c.*1252C>T	ENSP00000512218.1:n.*1252C>T
ENST00000423902.7:c.8193C>T MANE Select	ENSP00000392028.1:p.Ala2731=
ENST00000423902.6:c.8193C>T	ENSP00000392028.1:p.Ala2731=
ENST00000524602.5:c.2046C>T	ENSP00000437061.1:p.Ala682=
ENST00000528280.1:n.239C>T
ENST00000532149.1:n.615C>T
NM_001316690.1:c.2046C>T	NP_001303619.1:p.Ala682=
NM_017780.3:c.8193C>T	NP_060250.2:p.Ala2731=
XM_011517553.1:c.8283C>T	XP_011515855.1:p.Ala2761=
XM_011517554.1:c.8283C>T	XP_011515856.1:p.Ala2761=
XM_011517555.1:c.8280C>T	XP_011515857.1:p.Ala2760=
XM_011517556.1:c.8061C>T	XP_011515858.1:p.Ala2687=
XM_011517557.1:c.6270C>T	XP_011515859.1:p.Ala2090=
XM_011517558.1:c.5820C>T	XP_011515860.1:p.Ala1940=
XM_011517559.1:c.5028C>T	XP_011515861.1:p.Ala1676=
XM_011517553.2:c.8283C>T	XP_011515855.1:p.Ala2761=
XM_011517554.3:c.8283C>T	XP_011515856.1:p.Ala2761=
XM_011517555.2:c.8280C>T	XP_011515857.1:p.Ala2760=
XM_017013612.1:c.8283C>T	XP_016869101.1:p.Ala2761=
XM_017013613.1:c.8190C>T	XP_016869102.1:p.Ala2730=
NM_017780.4:c.8193C>T MANE Select	NP_060250.2:p.Ala2731=