Canonical Allele Identifier: CA371304282

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773503A>C (hg19) ; chr8:g.60860944A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860944A>C , CM000670.2:g.60860944A>C	GRCh38
NC_000008.10:g.61773503A>C , CM000670.1:g.61773503A>C	GRCh37
NC_000008.9:g.61936057A>C	NCBI36
NG_007009.1:g.187165A>C , LRG_176:g.187165A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.825A>C
ENST00000695851.1:n.29A>C
ENST00000695853.1:c.*708A>C	ENSP00000512218.1:n.*708A>C
ENST00000423902.7:c.7649A>C MANE Select	ENSP00000392028.1:p.Glu2550Ala
ENST00000423902.6:c.7649A>C	ENSP00000392028.1:p.Glu2550Ala
ENST00000524602.5:c.1717-1285A>C	ENSP00000437061.1:n.1717-1285A>C
ENST00000531695.1:n.73A>C
ENST00000618450.1:n.41A>C
NM_001316690.1:c.1717-1285A>C	NP_001303619.1:n.1717-1285A>C
NM_017780.3:c.7649A>C	NP_060250.2:p.Glu2550Ala
XM_011517553.1:c.7739A>C	XP_011515855.1:p.Glu2580Ala
XM_011517554.1:c.7739A>C	XP_011515856.1:p.Glu2580Ala
XM_011517555.1:c.7736A>C	XP_011515857.1:p.Glu2579Ala
XM_011517556.1:c.7699-1252A>C	XP_011515858.1:n.7699-1252A>C
XM_011517557.1:c.5726A>C	XP_011515859.1:p.Glu1909Ala
XM_011517558.1:c.5276A>C	XP_011515860.1:p.Glu1759Ala
XM_011517559.1:c.4484A>C	XP_011515861.1:p.Glu1495Ala
XM_011517553.2:c.7739A>C	XP_011515855.1:p.Glu2580Ala
XM_011517554.3:c.7739A>C	XP_011515856.1:p.Glu2580Ala
XM_011517555.2:c.7736A>C	XP_011515857.1:p.Glu2579Ala
XM_017013612.1:c.7739A>C	XP_016869101.1:p.Glu2580Ala
XM_017013613.1:c.7646A>C	XP_016869102.1:p.Glu2549Ala
NM_017780.4:c.7649A>C MANE Select	NP_060250.2:p.Glu2550Ala