Canonical Allele Identifier: CA394821987

Gene: ERCC4

Linked Data

• dbSNP Id: rs373906926
• gnomAD v2: 16-14041578-G-T
• gnomAD v4: 16-13947721-G-T
• MyVariant Identifiers: chr16:g.14041578G>T (hg19) ; chr16:g.13947721G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947721G>T , CM000678.2:g.13947721G>T	GRCh38
NC_000016.9:g.14041578G>T , CM000678.1:g.14041578G>T	GRCh37
NC_000016.8:g.13949079G>T	NCBI36
NG_011442.1:g.32565G>T , LRG_463:g.32565G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2263G>T	ENSP00000507912.1:p.Val755Leu
ENST00000683962.1:c.*1819G>T	ENSP00000506854.1:n.*1819G>T
ENST00000311895.8:c.2125G>T MANE Select	ENSP00000310520.7:p.Val709Leu
ENST00000311895.7:c.2125G>T	ENSP00000310520.7:p.Val709Leu
ENST00000389138.7:n.1402G>T
ENST00000462862.1:c.438G>T	ENSP00000461322.1:n.438G>T
NM_005236.2:c.2125G>T , LRG_463t1:c.2125G>T	NP_005227.1:p.Val709Leu
XM_011522424.1:c.2263G>T	XP_011520726.1:p.Val755Leu
XM_011522425.1:c.1582G>T	XP_011520727.1:p.Val528Leu
XM_011522426.1:c.1336G>T	XP_011520728.1:p.Val446Leu
XM_011522427.1:c.775G>T	XP_011520729.1:p.Val259Leu
XR_932805.1:n.2284G>T
XM_011522424.3:c.2263G>T	XP_011520726.1:p.Val755Leu
XM_017023043.2:c.1336G>T	XP_016878532.1:p.Val446Leu
NM_005236.3:c.2125G>T MANE Select	NP_005227.1:p.Val709Leu