Canonical Allele Identifier: CA461105353

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61765680T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853121T>G , CM000670.2:g.60853121T>G	GRCh38
NC_000008.10:g.61765680T>G , CM000670.1:g.61765680T>G	GRCh37
NC_000008.9:g.61928234T>G	NCBI36
NG_007009.1:g.179342T>G , LRG_176:g.179342T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6396T>G	ENSP00000512218.1:p.Ala2132=
ENST00000423902.7:c.6396T>G MANE Select	ENSP00000392028.1:p.Ala2132=
ENST00000423902.6:c.6396T>G	ENSP00000392028.1:p.Ala2132=
ENST00000524602.5:c.1717-9108T>G	ENSP00000437061.1:n.1717-9108T>G
NM_001316690.1:c.1717-9108T>G	NP_001303619.1:n.1717-9108T>G
NM_017780.3:c.6396T>G	NP_060250.2:p.Ala2132=
XM_011517553.1:c.6486T>G	XP_011515855.1:p.Ala2162=
XM_011517554.1:c.6486T>G	XP_011515856.1:p.Ala2162=
XM_011517555.1:c.6486T>G	XP_011515857.1:p.Ala2162=
XM_011517556.1:c.6486T>G	XP_011515858.1:p.Ala2162=
XM_011517557.1:c.4473T>G	XP_011515859.1:p.Ala1491=
XM_011517558.1:c.4023T>G	XP_011515860.1:p.Ala1341=
XM_011517559.1:c.3231T>G	XP_011515861.1:p.Ala1077=
XM_011517553.2:c.6486T>G	XP_011515855.1:p.Ala2162=
XM_011517554.3:c.6486T>G	XP_011515856.1:p.Ala2162=
XM_011517555.2:c.6486T>G	XP_011515857.1:p.Ala2162=
XM_017013612.1:c.6486T>G	XP_016869101.1:p.Ala2162=
XM_017013613.1:c.6396T>G	XP_016869102.1:p.Ala2132=
NM_017780.4:c.6396T>G MANE Select	NP_060250.2:p.Ala2132=