Canonical Allele Identifier: CA461105774

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777682A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865123A>G , CM000670.2:g.60865123A>G	GRCh38
NC_000008.10:g.61777682A>G , CM000670.1:g.61777682A>G	GRCh37
NC_000008.9:g.61940236A>G	NCBI36
NG_007009.1:g.191344A>G , LRG_176:g.191344A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1360A>G
ENST00000695852.1:n.291A>G
ENST00000695853.1:c.*1243A>G	ENSP00000512218.1:n.*1243A>G
ENST00000423902.7:c.8184A>G MANE Select	ENSP00000392028.1:p.Ala2728=
ENST00000423902.6:c.8184A>G	ENSP00000392028.1:p.Ala2728=
ENST00000524602.5:c.2037A>G	ENSP00000437061.1:p.Ala679=
ENST00000528280.1:n.230A>G
ENST00000532149.1:n.606A>G
ENST00000618450.1:n.4220A>G
NM_001316690.1:c.2037A>G	NP_001303619.1:p.Ala679=
NM_017780.3:c.8184A>G	NP_060250.2:p.Ala2728=
XM_011517553.1:c.8274A>G	XP_011515855.1:p.Ala2758=
XM_011517554.1:c.8274A>G	XP_011515856.1:p.Ala2758=
XM_011517555.1:c.8271A>G	XP_011515857.1:p.Ala2757=
XM_011517556.1:c.8052A>G	XP_011515858.1:p.Ala2684=
XM_011517557.1:c.6261A>G	XP_011515859.1:p.Ala2087=
XM_011517558.1:c.5811A>G	XP_011515860.1:p.Ala1937=
XM_011517559.1:c.5019A>G	XP_011515861.1:p.Ala1673=
XM_011517553.2:c.8274A>G	XP_011515855.1:p.Ala2758=
XM_011517554.3:c.8274A>G	XP_011515856.1:p.Ala2758=
XM_011517555.2:c.8271A>G	XP_011515857.1:p.Ala2757=
XM_017013612.1:c.8274A>G	XP_016869101.1:p.Ala2758=
XM_017013613.1:c.8181A>G	XP_016869102.1:p.Ala2727=
NM_017780.4:c.8184A>G MANE Select	NP_060250.2:p.Ala2728=