Canonical Allele Identifier: CA371324913

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61765648T>G (hg19) ; chr8:g.60853089T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853089T>G , CM000670.2:g.60853089T>G	GRCh38
NC_000008.10:g.61765648T>G , CM000670.1:g.61765648T>G	GRCh37
NC_000008.9:g.61928202T>G	NCBI36
NG_007009.1:g.179310T>G , LRG_176:g.179310T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6364T>G	ENSP00000512218.1:p.Leu2122Val
ENST00000423902.7:c.6364T>G MANE Select	ENSP00000392028.1:p.Leu2122Val
ENST00000423902.6:c.6364T>G	ENSP00000392028.1:p.Leu2122Val
ENST00000524602.5:c.1717-9140T>G	ENSP00000437061.1:n.1717-9140T>G
NM_001316690.1:c.1717-9140T>G	NP_001303619.1:n.1717-9140T>G
NM_017780.3:c.6364T>G	NP_060250.2:p.Leu2122Val
XM_011517553.1:c.6454T>G	XP_011515855.1:p.Leu2152Val
XM_011517554.1:c.6454T>G	XP_011515856.1:p.Leu2152Val
XM_011517555.1:c.6454T>G	XP_011515857.1:p.Leu2152Val
XM_011517556.1:c.6454T>G	XP_011515858.1:p.Leu2152Val
XM_011517557.1:c.4441T>G	XP_011515859.1:p.Leu1481Val
XM_011517558.1:c.3991T>G	XP_011515860.1:p.Leu1331Val
XM_011517559.1:c.3199T>G	XP_011515861.1:p.Leu1067Val
XM_011517553.2:c.6454T>G	XP_011515855.1:p.Leu2152Val
XM_011517554.3:c.6454T>G	XP_011515856.1:p.Leu2152Val
XM_011517555.2:c.6454T>G	XP_011515857.1:p.Leu2152Val
XM_017013612.1:c.6454T>G	XP_016869101.1:p.Leu2152Val
XM_017013613.1:c.6364T>G	XP_016869102.1:p.Leu2122Val
NM_017780.4:c.6364T>G MANE Select	NP_060250.2:p.Leu2122Val