Canonical Allele Identifier: CA371307732

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1715393
• ClinVar RCV Id: RCV002304551
• MyVariant Identifiers: chr8:g.61777707T>A (hg19) ; chr8:g.60865148T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865148T>A , CM000670.2:g.60865148T>A	GRCh38
NC_000008.10:g.61777707T>A , CM000670.1:g.61777707T>A	GRCh37
NC_000008.9:g.61940261T>A	NCBI36
NG_007009.1:g.191369T>A , LRG_176:g.191369T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1385T>A
ENST00000695852.1:n.316T>A
ENST00000695853.1:c.*1268T>A	ENSP00000512218.1:n.*1268T>A
ENST00000423902.7:c.8209T>A MANE Select	ENSP00000392028.1:p.Ser2737Thr
ENST00000423902.6:c.8209T>A	ENSP00000392028.1:p.Ser2737Thr
ENST00000524602.5:c.2062T>A	ENSP00000437061.1:p.Ser688Thr
ENST00000528280.1:n.255T>A
NM_001316690.1:c.2062T>A	NP_001303619.1:p.Ser688Thr
NM_017780.3:c.8209T>A	NP_060250.2:p.Ser2737Thr
XM_011517553.1:c.8299T>A	XP_011515855.1:p.Ser2767Thr
XM_011517554.1:c.8299T>A	XP_011515856.1:p.Ser2767Thr
XM_011517555.1:c.8296T>A	XP_011515857.1:p.Ser2766Thr
XM_011517556.1:c.8077T>A	XP_011515858.1:p.Ser2693Thr
XM_011517557.1:c.6286T>A	XP_011515859.1:p.Ser2096Thr
XM_011517558.1:c.5836T>A	XP_011515860.1:p.Ser1946Thr
XM_011517559.1:c.5044T>A	XP_011515861.1:p.Ser1682Thr
XM_011517553.2:c.8299T>A	XP_011515855.1:p.Ser2767Thr
XM_011517554.3:c.8299T>A	XP_011515856.1:p.Ser2767Thr
XM_011517555.2:c.8296T>A	XP_011515857.1:p.Ser2766Thr
XM_017013612.1:c.8299T>A	XP_016869101.1:p.Ser2767Thr
XM_017013613.1:c.8206T>A	XP_016869102.1:p.Ser2736Thr
NM_017780.4:c.8209T>A MANE Select	NP_060250.2:p.Ser2737Thr