Canonical Allele Identifier: CA371307555

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2909245
• ClinVar RCV Id: RCV003603814
• dbSNP Id: rs1563673442
• gnomAD v4: 8-60865116-C-T
• MyVariant Identifiers: chr8:g.61777675C>T (hg19) ; chr8:g.60865116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865116C>T , CM000670.2:g.60865116C>T	GRCh38
NC_000008.10:g.61777675C>T , CM000670.1:g.61777675C>T	GRCh37
NC_000008.9:g.61940229C>T	NCBI36
NG_007009.1:g.191337C>T , LRG_176:g.191337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1353C>T
ENST00000695852.1:n.284C>T
ENST00000695853.1:c.*1236C>T	ENSP00000512218.1:n.*1236C>T
ENST00000423902.7:c.8177C>T MANE Select	ENSP00000392028.1:p.Ala2726Val
ENST00000423902.6:c.8177C>T	ENSP00000392028.1:p.Ala2726Val
ENST00000524602.5:c.2030C>T	ENSP00000437061.1:p.Ala677Val
ENST00000528280.1:n.223C>T
ENST00000532149.1:n.599C>T
ENST00000618450.1:n.4213C>T
NM_001316690.1:c.2030C>T	NP_001303619.1:p.Ala677Val
NM_017780.3:c.8177C>T	NP_060250.2:p.Ala2726Val
XM_011517553.1:c.8267C>T	XP_011515855.1:p.Ala2756Val
XM_011517554.1:c.8267C>T	XP_011515856.1:p.Ala2756Val
XM_011517555.1:c.8264C>T	XP_011515857.1:p.Ala2755Val
XM_011517556.1:c.8045C>T	XP_011515858.1:p.Ala2682Val
XM_011517557.1:c.6254C>T	XP_011515859.1:p.Ala2085Val
XM_011517558.1:c.5804C>T	XP_011515860.1:p.Ala1935Val
XM_011517559.1:c.5012C>T	XP_011515861.1:p.Ala1671Val
XM_011517553.2:c.8267C>T	XP_011515855.1:p.Ala2756Val
XM_011517554.3:c.8267C>T	XP_011515856.1:p.Ala2756Val
XM_011517555.2:c.8264C>T	XP_011515857.1:p.Ala2755Val
XM_017013612.1:c.8267C>T	XP_016869101.1:p.Ala2756Val
XM_017013613.1:c.8174C>T	XP_016869102.1:p.Ala2725Val
NM_017780.4:c.8177C>T MANE Select	NP_060250.2:p.Ala2726Val