Canonical Allele Identifier: CA371304279

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773502G>C (hg19) ; chr8:g.60860943G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860943G>C , CM000670.2:g.60860943G>C	GRCh38
NC_000008.10:g.61773502G>C , CM000670.1:g.61773502G>C	GRCh37
NC_000008.9:g.61936056G>C	NCBI36
NG_007009.1:g.187164G>C , LRG_176:g.187164G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.824G>C
ENST00000695851.1:n.28G>C
ENST00000695853.1:c.*707G>C	ENSP00000512218.1:n.*707G>C
ENST00000423902.7:c.7648G>C MANE Select	ENSP00000392028.1:p.Glu2550Gln
ENST00000423902.6:c.7648G>C	ENSP00000392028.1:p.Glu2550Gln
ENST00000524602.5:c.1717-1286G>C	ENSP00000437061.1:n.1717-1286G>C
ENST00000531695.1:n.72G>C
ENST00000618450.1:n.40G>C
NM_001316690.1:c.1717-1286G>C	NP_001303619.1:n.1717-1286G>C
NM_017780.3:c.7648G>C	NP_060250.2:p.Glu2550Gln
XM_011517553.1:c.7738G>C	XP_011515855.1:p.Glu2580Gln
XM_011517554.1:c.7738G>C	XP_011515856.1:p.Glu2580Gln
XM_011517555.1:c.7735G>C	XP_011515857.1:p.Glu2579Gln
XM_011517556.1:c.7699-1253G>C	XP_011515858.1:n.7699-1253G>C
XM_011517557.1:c.5725G>C	XP_011515859.1:p.Glu1909Gln
XM_011517558.1:c.5275G>C	XP_011515860.1:p.Glu1759Gln
XM_011517559.1:c.4483G>C	XP_011515861.1:p.Glu1495Gln
XM_011517553.2:c.7738G>C	XP_011515855.1:p.Glu2580Gln
XM_011517554.3:c.7738G>C	XP_011515856.1:p.Glu2580Gln
XM_011517555.2:c.7735G>C	XP_011515857.1:p.Glu2579Gln
XM_017013612.1:c.7738G>C	XP_016869101.1:p.Glu2580Gln
XM_017013613.1:c.7645G>C	XP_016869102.1:p.Glu2549Gln
NM_017780.4:c.7648G>C MANE Select	NP_060250.2:p.Glu2550Gln