Canonical Allele Identifier: CA371304591

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773595G>C (hg19) ; chr8:g.60861036G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861036G>C , CM000670.2:g.60861036G>C	GRCh38
NC_000008.10:g.61773595G>C , CM000670.1:g.61773595G>C	GRCh37
NC_000008.9:g.61936149G>C	NCBI36
NG_007009.1:g.187257G>C , LRG_176:g.187257G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.917G>C
ENST00000695851.1:n.121G>C
ENST00000695853.1:c.*800G>C	ENSP00000512218.1:n.*800G>C
ENST00000423902.7:c.7741G>C MANE Select	ENSP00000392028.1:p.Val2581Leu
ENST00000423902.6:c.7741G>C	ENSP00000392028.1:p.Val2581Leu
ENST00000524602.5:c.1717-1193G>C	ENSP00000437061.1:n.1717-1193G>C
ENST00000531695.1:n.165G>C
ENST00000618450.1:n.133G>C
NM_001316690.1:c.1717-1193G>C	NP_001303619.1:n.1717-1193G>C
NM_017780.3:c.7741G>C	NP_060250.2:p.Val2581Leu
XM_011517553.1:c.7831G>C	XP_011515855.1:p.Val2611Leu
XM_011517554.1:c.7831G>C	XP_011515856.1:p.Val2611Leu
XM_011517555.1:c.7828G>C	XP_011515857.1:p.Val2610Leu
XM_011517556.1:c.7699-1160G>C	XP_011515858.1:n.7699-1160G>C
XM_011517557.1:c.5818G>C	XP_011515859.1:p.Val1940Leu
XM_011517558.1:c.5368G>C	XP_011515860.1:p.Val1790Leu
XM_011517559.1:c.4576G>C	XP_011515861.1:p.Val1526Leu
XM_011517553.2:c.7831G>C	XP_011515855.1:p.Val2611Leu
XM_011517554.3:c.7831G>C	XP_011515856.1:p.Val2611Leu
XM_011517555.2:c.7828G>C	XP_011515857.1:p.Val2610Leu
XM_017013612.1:c.7831G>C	XP_016869101.1:p.Val2611Leu
XM_017013613.1:c.7738G>C	XP_016869102.1:p.Val2580Leu
NM_017780.4:c.7741G>C MANE Select	NP_060250.2:p.Val2581Leu