Canonical Allele Identifier: CA461105814

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1161085
• ClinVar RCV Id: RCV001505473 ; RCV002424939
• dbSNP Id: rs1346132011
• gnomAD v4: 8-60865147-C-T
• MyVariant Identifiers: chr8:g.61777706C>T (hg19) ; chr8:g.60865147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865147C>T , CM000670.2:g.60865147C>T	GRCh38
NC_000008.10:g.61777706C>T , CM000670.1:g.61777706C>T	GRCh37
NC_000008.9:g.61940260C>T	NCBI36
NG_007009.1:g.191368C>T , LRG_176:g.191368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1384C>T
ENST00000695852.1:n.315C>T
ENST00000695853.1:c.*1267C>T	ENSP00000512218.1:n.*1267C>T
ENST00000423902.7:c.8208C>T MANE Select	ENSP00000392028.1:p.Ala2736=
ENST00000423902.6:c.8208C>T	ENSP00000392028.1:p.Ala2736=
ENST00000524602.5:c.2061C>T	ENSP00000437061.1:p.Ala687=
ENST00000528280.1:n.254C>T
NM_001316690.1:c.2061C>T	NP_001303619.1:p.Ala687=
NM_017780.3:c.8208C>T	NP_060250.2:p.Ala2736=
XM_011517553.1:c.8298C>T	XP_011515855.1:p.Ala2766=
XM_011517554.1:c.8298C>T	XP_011515856.1:p.Ala2766=
XM_011517555.1:c.8295C>T	XP_011515857.1:p.Ala2765=
XM_011517556.1:c.8076C>T	XP_011515858.1:p.Ala2692=
XM_011517557.1:c.6285C>T	XP_011515859.1:p.Ala2095=
XM_011517558.1:c.5835C>T	XP_011515860.1:p.Ala1945=
XM_011517559.1:c.5043C>T	XP_011515861.1:p.Ala1681=
XM_011517553.2:c.8298C>T	XP_011515855.1:p.Ala2766=
XM_011517554.3:c.8298C>T	XP_011515856.1:p.Ala2766=
XM_011517555.2:c.8295C>T	XP_011515857.1:p.Ala2765=
XM_017013612.1:c.8298C>T	XP_016869101.1:p.Ala2766=
XM_017013613.1:c.8205C>T	XP_016869102.1:p.Ala2735=
NM_017780.4:c.8208C>T MANE Select	NP_060250.2:p.Ala2736=