Canonical Allele Identifier: CA4760955

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1297509
• ClinVar RCV Id: RCV001723290 ; RCV002488480 ; RCV002539746
• dbSNP Id: rs573554562
• ExAC: 8:61777639 C / T
• gnomAD v2: 8-61777639-C-T
• gnomAD v3: 8-60865080-C-T
• gnomAD v4: 8-60865080-C-T
• COSMIC: COSM2720158
• MyVariant Identifiers: chr8:g.61777639C>T (hg19) ; chr8:g.60865080C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865080C>T , CM000670.2:g.60865080C>T	GRCh38
NC_000008.10:g.61777639C>T , CM000670.1:g.61777639C>T	GRCh37
NC_000008.9:g.61940193C>T	NCBI36
NG_007009.1:g.191301C>T , LRG_176:g.191301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1317C>T
ENST00000695852.1:n.248C>T
ENST00000695853.1:c.*1200C>T	ENSP00000512218.1:n.*1200C>T
ENST00000423902.7:c.8141C>T MANE Select	ENSP00000392028.1:p.Ala2714Val
ENST00000423902.6:c.8141C>T	ENSP00000392028.1:p.Ala2714Val
ENST00000524602.5:c.1994C>T	ENSP00000437061.1:p.Ala665Val
ENST00000528280.1:n.187C>T
ENST00000532149.1:n.563C>T
ENST00000618450.1:n.4177C>T
NM_001316690.1:c.1994C>T	NP_001303619.1:p.Ala665Val
NM_017780.3:c.8141C>T	NP_060250.2:p.Ala2714Val
XM_011517553.1:c.8231C>T	XP_011515855.1:p.Ala2744Val
XM_011517554.1:c.8231C>T	XP_011515856.1:p.Ala2744Val
XM_011517555.1:c.8228C>T	XP_011515857.1:p.Ala2743Val
XM_011517556.1:c.8009C>T	XP_011515858.1:p.Ala2670Val
XM_011517557.1:c.6218C>T	XP_011515859.1:p.Ala2073Val
XM_011517558.1:c.5768C>T	XP_011515860.1:p.Ala1923Val
XM_011517559.1:c.4976C>T	XP_011515861.1:p.Ala1659Val
XM_011517553.2:c.8231C>T	XP_011515855.1:p.Ala2744Val
XM_011517554.3:c.8231C>T	XP_011515856.1:p.Ala2744Val
XM_011517555.2:c.8228C>T	XP_011515857.1:p.Ala2743Val
XM_017013612.1:c.8231C>T	XP_016869101.1:p.Ala2744Val
XM_017013613.1:c.8138C>T	XP_016869102.1:p.Ala2713Val
NM_017780.4:c.8141C>T MANE Select	NP_060250.2:p.Ala2714Val