Canonical Allele Identifier: CA371304665

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773626T>A (hg19) ; chr8:g.60861067T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861067T>A , CM000670.2:g.60861067T>A	GRCh38
NC_000008.10:g.61773626T>A , CM000670.1:g.61773626T>A	GRCh37
NC_000008.9:g.61936180T>A	NCBI36
NG_007009.1:g.187288T>A , LRG_176:g.187288T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.948T>A
ENST00000695851.1:n.152T>A
ENST00000695853.1:c.*831T>A	ENSP00000512218.1:n.*831T>A
ENST00000423902.7:c.7772T>A MANE Select	ENSP00000392028.1:p.Leu2591Ter
ENST00000423902.6:c.7772T>A	ENSP00000392028.1:p.Leu2591Ter
ENST00000524602.5:c.1717-1162T>A	ENSP00000437061.1:n.1717-1162T>A
ENST00000531695.1:n.196T>A
ENST00000618450.1:n.164T>A
NM_001316690.1:c.1717-1162T>A	NP_001303619.1:n.1717-1162T>A
NM_017780.3:c.7772T>A	NP_060250.2:p.Leu2591Ter
XM_011517553.1:c.7862T>A	XP_011515855.1:p.Leu2621Ter
XM_011517554.1:c.7862T>A	XP_011515856.1:p.Leu2621Ter
XM_011517555.1:c.7859T>A	XP_011515857.1:p.Leu2620Ter
XM_011517556.1:c.7699-1129T>A	XP_011515858.1:n.7699-1129T>A
XM_011517557.1:c.5849T>A	XP_011515859.1:p.Leu1950Ter
XM_011517558.1:c.5399T>A	XP_011515860.1:p.Leu1800Ter
XM_011517559.1:c.4607T>A	XP_011515861.1:p.Leu1536Ter
XM_011517553.2:c.7862T>A	XP_011515855.1:p.Leu2621Ter
XM_011517554.3:c.7862T>A	XP_011515856.1:p.Leu2621Ter
XM_011517555.2:c.7859T>A	XP_011515857.1:p.Leu2620Ter
XM_017013612.1:c.7862T>A	XP_016869101.1:p.Leu2621Ter
XM_017013613.1:c.7769T>A	XP_016869102.1:p.Leu2590Ter
NM_017780.4:c.7772T>A MANE Select	NP_060250.2:p.Leu2591Ter