Canonical Allele Identifier: CA4760541

Gene: CHD7

Linked Data

• dbSNP Id: rs774344042
• ExAC: 8:61765423 A / T
• gnomAD v2: 8-61765423-A-T
• gnomAD v4: 8-60852864-A-T
• MyVariant Identifiers: chr8:g.61765423A>T (hg19) ; chr8:g.60852864A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852864A>T , CM000670.2:g.60852864A>T	GRCh38
NC_000008.10:g.61765423A>T , CM000670.1:g.61765423A>T	GRCh37
NC_000008.9:g.61927977A>T	NCBI36
NG_007009.1:g.179085A>T , LRG_176:g.179085A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.6139A>T	ENSP00000512218.1:p.Thr2047Ser
ENST00000423902.7:c.6139A>T MANE Select	ENSP00000392028.1:p.Thr2047Ser
ENST00000423902.6:c.6139A>T	ENSP00000392028.1:p.Thr2047Ser
ENST00000524602.5:c.1717-9365A>T	ENSP00000437061.1:n.1717-9365A>T
NM_001316690.1:c.1717-9365A>T	NP_001303619.1:n.1717-9365A>T
NM_017780.3:c.6139A>T	NP_060250.2:p.Thr2047Ser
XM_011517553.1:c.6229A>T	XP_011515855.1:p.Thr2077Ser
XM_011517554.1:c.6229A>T	XP_011515856.1:p.Thr2077Ser
XM_011517555.1:c.6229A>T	XP_011515857.1:p.Thr2077Ser
XM_011517556.1:c.6229A>T	XP_011515858.1:p.Thr2077Ser
XM_011517557.1:c.4216A>T	XP_011515859.1:p.Thr1406Ser
XM_011517558.1:c.3766A>T	XP_011515860.1:p.Thr1256Ser
XM_011517559.1:c.2974A>T	XP_011515861.1:p.Thr992Ser
XM_011517553.2:c.6229A>T	XP_011515855.1:p.Thr2077Ser
XM_011517554.3:c.6229A>T	XP_011515856.1:p.Thr2077Ser
XM_011517555.2:c.6229A>T	XP_011515857.1:p.Thr2077Ser
XM_017013612.1:c.6229A>T	XP_016869101.1:p.Thr2077Ser
XM_017013613.1:c.6139A>T	XP_016869102.1:p.Thr2047Ser
NM_017780.4:c.6139A>T MANE Select	NP_060250.2:p.Thr2047Ser