Canonical Allele Identifier: CA394825022

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141621510
• gnomAD v4: 16-13948297-A-G
• MyVariant Identifiers: chr16:g.14042154A>G (hg19) ; chr16:g.13948297A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948297A>G , CM000678.2:g.13948297A>G	GRCh38
NC_000016.9:g.14042154A>G , CM000678.1:g.14042154A>G	GRCh37
NC_000016.8:g.13949655A>G	NCBI36
NG_011442.1:g.33141A>G , LRG_463:g.33141A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2839A>G	ENSP00000507912.1:p.Ile947Val
ENST00000683962.1:c.*2395A>G	ENSP00000506854.1:n.*2395A>G
ENST00000311895.8:c.2701A>G MANE Select	ENSP00000310520.7:p.Ile901Val
ENST00000311895.7:c.2701A>G	ENSP00000310520.7:p.Ile901Val
ENST00000389138.7:n.1978A>G
NM_005236.2:c.2701A>G , LRG_463t1:c.2701A>G	NP_005227.1:p.Ile901Val
XM_011522424.1:c.2839A>G	XP_011520726.1:p.Ile947Val
XM_011522425.1:c.2158A>G	XP_011520727.1:p.Ile720Val
XM_011522426.1:c.1912A>G	XP_011520728.1:p.Ile638Val
XM_011522427.1:c.1351A>G	XP_011520729.1:p.Ile451Val
XR_932805.1:n.2860A>G
XM_011522424.3:c.2839A>G	XP_011520726.1:p.Ile947Val
XM_017023043.2:c.1912A>G	XP_016878532.1:p.Ile638Val
NM_005236.3:c.2701A>G MANE Select	NP_005227.1:p.Ile901Val