Canonical Allele Identifier: CA275208

Gene: CHD7

Linked Data

• ClinVar Variation Id: 196707
• ClinVar RCV Id: RCV000177569
• dbSNP Id: rs750047137
• MyVariant Identifiers: chr8:g.61765813G>T (hg19) ; chr8:g.60853254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853254G>T , CM000670.2:g.60853254G>T	GRCh38
NC_000008.10:g.61765813G>T , CM000670.1:g.61765813G>T	GRCh37
NC_000008.9:g.61928367G>T	NCBI36
NG_007009.1:g.179475G>T , LRG_176:g.179475G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6529G>T	ENSP00000512218.1:p.Glu2177Ter
ENST00000423902.7:c.6529G>T MANE Select	ENSP00000392028.1:p.Glu2177Ter
ENST00000423902.6:c.6529G>T	ENSP00000392028.1:p.Glu2177Ter
ENST00000524602.5:c.1717-8975G>T	ENSP00000437061.1:n.1717-8975G>T
NM_001316690.1:c.1717-8975G>T	NP_001303619.1:n.1717-8975G>T
NM_017780.3:c.6529G>T	NP_060250.2:p.Glu2177Ter
XM_011517553.1:c.6619G>T	XP_011515855.1:p.Glu2207Ter
XM_011517554.1:c.6619G>T	XP_011515856.1:p.Glu2207Ter
XM_011517555.1:c.6619G>T	XP_011515857.1:p.Glu2207Ter
XM_011517556.1:c.6619G>T	XP_011515858.1:p.Glu2207Ter
XM_011517557.1:c.4606G>T	XP_011515859.1:p.Glu1536Ter
XM_011517558.1:c.4156G>T	XP_011515860.1:p.Glu1386Ter
XM_011517559.1:c.3364G>T	XP_011515861.1:p.Glu1122Ter
XM_011517553.2:c.6619G>T	XP_011515855.1:p.Glu2207Ter
XM_011517554.3:c.6619G>T	XP_011515856.1:p.Glu2207Ter
XM_011517555.2:c.6619G>T	XP_011515857.1:p.Glu2207Ter
XM_017013612.1:c.6619G>T	XP_016869101.1:p.Glu2207Ter
XM_017013613.1:c.6529G>T	XP_016869102.1:p.Glu2177Ter
NM_017780.4:c.6529G>T MANE Select	NP_060250.2:p.Glu2177Ter