Canonical Allele Identifier: CA394824066

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041935G>C (hg19) ; chr16:g.13948078G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948078G>C , CM000678.2:g.13948078G>C	GRCh38
NC_000016.9:g.14041935G>C , CM000678.1:g.14041935G>C	GRCh37
NC_000016.8:g.13949436G>C	NCBI36
NG_011442.1:g.32922G>C , LRG_463:g.32922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2620G>C	ENSP00000507912.1:p.Ala874Pro
ENST00000683962.1:c.*2176G>C	ENSP00000506854.1:n.*2176G>C
ENST00000311895.8:c.2482G>C MANE Select	ENSP00000310520.7:p.Ala828Pro
ENST00000311895.7:c.2482G>C	ENSP00000310520.7:p.Ala828Pro
ENST00000389138.7:n.1759G>C
NM_005236.2:c.2482G>C , LRG_463t1:c.2482G>C	NP_005227.1:p.Ala828Pro
XM_011522424.1:c.2620G>C	XP_011520726.1:p.Ala874Pro
XM_011522425.1:c.1939G>C	XP_011520727.1:p.Ala647Pro
XM_011522426.1:c.1693G>C	XP_011520728.1:p.Ala565Pro
XM_011522427.1:c.1132G>C	XP_011520729.1:p.Ala378Pro
XR_932805.1:n.2641G>C
XM_011522424.3:c.2620G>C	XP_011520726.1:p.Ala874Pro
XM_017023043.2:c.1693G>C	XP_016878532.1:p.Ala565Pro
NM_005236.3:c.2482G>C MANE Select	NP_005227.1:p.Ala828Pro