Canonical Allele Identifier: CA4760966

Gene: CHD7

Linked Data

• ClinVar Variation Id: 701446
• ClinVar RCV Id: RCV000869994 ; RCV001195448 ; RCV003432821
• dbSNP Id: rs375800664
• ExAC: 8:61777694 C / T
• gnomAD v2: 8-61777694-C-T
• gnomAD v3: 8-60865135-C-T
• gnomAD v4: 8-60865135-C-T
• COSMIC: COSM2720159
• MyVariant Identifiers: chr8:g.61777694C>T (hg19) ; chr8:g.60865135C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865135C>T , CM000670.2:g.60865135C>T	GRCh38
NC_000008.10:g.61777694C>T , CM000670.1:g.61777694C>T	GRCh37
NC_000008.9:g.61940248C>T	NCBI36
NG_007009.1:g.191356C>T , LRG_176:g.191356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1372C>T
ENST00000695852.1:n.303C>T
ENST00000695853.1:c.*1255C>T	ENSP00000512218.1:n.*1255C>T
ENST00000423902.7:c.8196C>T MANE Select	ENSP00000392028.1:p.Ala2732=
ENST00000423902.6:c.8196C>T	ENSP00000392028.1:p.Ala2732=
ENST00000524602.5:c.2049C>T	ENSP00000437061.1:p.Ala683=
ENST00000528280.1:n.242C>T
NM_001316690.1:c.2049C>T	NP_001303619.1:p.Ala683=
NM_017780.3:c.8196C>T	NP_060250.2:p.Ala2732=
XM_011517553.1:c.8286C>T	XP_011515855.1:p.Ala2762=
XM_011517554.1:c.8286C>T	XP_011515856.1:p.Ala2762=
XM_011517555.1:c.8283C>T	XP_011515857.1:p.Ala2761=
XM_011517556.1:c.8064C>T	XP_011515858.1:p.Ala2688=
XM_011517557.1:c.6273C>T	XP_011515859.1:p.Ala2091=
XM_011517558.1:c.5823C>T	XP_011515860.1:p.Ala1941=
XM_011517559.1:c.5031C>T	XP_011515861.1:p.Ala1677=
XM_011517553.2:c.8286C>T	XP_011515855.1:p.Ala2762=
XM_011517554.3:c.8286C>T	XP_011515856.1:p.Ala2762=
XM_011517555.2:c.8283C>T	XP_011515857.1:p.Ala2761=
XM_017013612.1:c.8286C>T	XP_016869101.1:p.Ala2762=
XM_017013613.1:c.8193C>T	XP_016869102.1:p.Ala2731=
NM_017780.4:c.8196C>T MANE Select	NP_060250.2:p.Ala2732=