Canonical Allele Identifier: CA461105288

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61769024T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856465T>G , CM000670.2:g.60856465T>G	GRCh38
NC_000008.10:g.61769024T>G , CM000670.1:g.61769024T>G	GRCh37
NC_000008.9:g.61931578T>G	NCBI36
NG_007009.1:g.182686T>G , LRG_176:g.182686T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.361T>G
ENST00000695853.1:c.*244T>G	ENSP00000512218.1:n.*244T>G
ENST00000423902.7:c.7185T>G MANE Select	ENSP00000392028.1:p.Ser2395=
ENST00000423902.6:c.7185T>G	ENSP00000392028.1:p.Ser2395=
ENST00000524602.5:c.1717-5764T>G	ENSP00000437061.1:n.1717-5764T>G
ENST00000529472.1:n.366T>G
NM_001316690.1:c.1717-5764T>G	NP_001303619.1:n.1717-5764T>G
NM_017780.3:c.7185T>G	NP_060250.2:p.Ser2395=
XM_011517553.1:c.7275T>G	XP_011515855.1:p.Ser2425=
XM_011517554.1:c.7275T>G	XP_011515856.1:p.Ser2425=
XM_011517555.1:c.7272T>G	XP_011515857.1:p.Ser2424=
XM_011517556.1:c.7275T>G	XP_011515858.1:p.Ser2425=
XM_011517557.1:c.5262T>G	XP_011515859.1:p.Ser1754=
XM_011517558.1:c.4812T>G	XP_011515860.1:p.Ser1604=
XM_011517559.1:c.4020T>G	XP_011515861.1:p.Ser1340=
XM_011517553.2:c.7275T>G	XP_011515855.1:p.Ser2425=
XM_011517554.3:c.7275T>G	XP_011515856.1:p.Ser2425=
XM_011517555.2:c.7272T>G	XP_011515857.1:p.Ser2424=
XM_017013612.1:c.7275T>G	XP_016869101.1:p.Ser2425=
XM_017013613.1:c.7182T>G	XP_016869102.1:p.Ser2394=
NM_017780.4:c.7185T>G MANE Select	NP_060250.2:p.Ser2395=