Canonical Allele Identifier: CA394812535

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029522T>C (hg19) ; chr16:g.13935665T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935665T>C , CM000678.2:g.13935665T>C	GRCh38
NC_000016.9:g.14029522T>C , CM000678.1:g.14029522T>C	GRCh37
NC_000016.8:g.13937023T>C	NCBI36
NG_011442.1:g.20509T>C , LRG_463:g.20509T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1811T>C
ENST00000682617.1:c.1871T>C	ENSP00000507912.1:p.Val624Ala
ENST00000682826.1:c.*1047T>C	ENSP00000507274.1:n.*1047T>C
ENST00000682909.1:n.3773T>C
ENST00000683277.1:n.3378T>C
ENST00000683407.1:n.1741T>C
ENST00000683962.1:c.*1427T>C	ENSP00000506854.1:n.*1427T>C
ENST00000311895.8:c.1733T>C MANE Select	ENSP00000310520.7:p.Val578Ala
ENST00000311895.7:c.1733T>C	ENSP00000310520.7:p.Val578Ala
ENST00000389138.7:n.1010T>C
NM_005236.2:c.1733T>C , LRG_463t1:c.1733T>C	NP_005227.1:p.Val578Ala
XM_011522424.1:c.1871T>C	XP_011520726.1:p.Val624Ala
XM_011522425.1:c.1190T>C	XP_011520727.1:p.Val397Ala
XM_011522426.1:c.944T>C	XP_011520728.1:p.Val315Ala
XM_011522427.1:c.383T>C	XP_011520729.1:p.Val128Ala
XR_932805.1:n.1892T>C
XM_011522424.3:c.1871T>C	XP_011520726.1:p.Val624Ala
XM_017023043.2:c.944T>C	XP_016878532.1:p.Val315Ala
NM_005236.3:c.1733T>C MANE Select	NP_005227.1:p.Val578Ala