Canonical Allele Identifier: CA394824119

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032557057
• gnomAD v4: 16-13948088-T-C
• MyVariant Identifiers: chr16:g.14041945T>C (hg19) ; chr16:g.13948088T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948088T>C , CM000678.2:g.13948088T>C	GRCh38
NC_000016.9:g.14041945T>C , CM000678.1:g.14041945T>C	GRCh37
NC_000016.8:g.13949446T>C	NCBI36
NG_011442.1:g.32932T>C , LRG_463:g.32932T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2630T>C	ENSP00000507912.1:p.Ile877Thr
ENST00000683962.1:c.*2186T>C	ENSP00000506854.1:n.*2186T>C
ENST00000311895.8:c.2492T>C MANE Select	ENSP00000310520.7:p.Ile831Thr
ENST00000311895.7:c.2492T>C	ENSP00000310520.7:p.Ile831Thr
ENST00000389138.7:n.1769T>C
NM_005236.2:c.2492T>C , LRG_463t1:c.2492T>C	NP_005227.1:p.Ile831Thr
XM_011522424.1:c.2630T>C	XP_011520726.1:p.Ile877Thr
XM_011522425.1:c.1949T>C	XP_011520727.1:p.Ile650Thr
XM_011522426.1:c.1703T>C	XP_011520728.1:p.Ile568Thr
XM_011522427.1:c.1142T>C	XP_011520729.1:p.Ile381Thr
XR_932805.1:n.2651T>C
XM_011522424.3:c.2630T>C	XP_011520726.1:p.Ile877Thr
XM_017023043.2:c.1703T>C	XP_016878532.1:p.Ile568Thr
NM_005236.3:c.2492T>C MANE Select	NP_005227.1:p.Ile831Thr