Canonical Allele Identifier: CA394821188

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041506G>C (hg19) ; chr16:g.13947649G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947649G>C , CM000678.2:g.13947649G>C	GRCh38
NC_000016.9:g.14041506G>C , CM000678.1:g.14041506G>C	GRCh37
NC_000016.8:g.13949007G>C	NCBI36
NG_011442.1:g.32493G>C , LRG_463:g.32493G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2191G>C	ENSP00000507912.1:p.Val731Leu
ENST00000683962.1:c.*1747G>C	ENSP00000506854.1:n.*1747G>C
ENST00000311895.8:c.2053G>C MANE Select	ENSP00000310520.7:p.Val685Leu
ENST00000311895.7:c.2053G>C	ENSP00000310520.7:p.Val685Leu
ENST00000389138.7:n.1330G>C
ENST00000462862.1:c.366G>C	ENSP00000461322.1:n.366G>C
NM_005236.2:c.2053G>C , LRG_463t1:c.2053G>C	NP_005227.1:p.Val685Leu
XM_011522424.1:c.2191G>C	XP_011520726.1:p.Val731Leu
XM_011522425.1:c.1510G>C	XP_011520727.1:p.Val504Leu
XM_011522426.1:c.1264G>C	XP_011520728.1:p.Val422Leu
XM_011522427.1:c.703G>C	XP_011520729.1:p.Val235Leu
XR_932805.1:n.2212G>C
XM_011522424.3:c.2191G>C	XP_011520726.1:p.Val731Leu
XM_017023043.2:c.1264G>C	XP_016878532.1:p.Val422Leu
NM_005236.3:c.2053G>C MANE Select	NP_005227.1:p.Val685Leu