Canonical Allele Identifier: CA394822051

Gene: ERCC4

Linked Data

• dbSNP Id: rs1289813392
• gnomAD v2: 16-14041585-T-C
• gnomAD v4: 16-13947728-T-C
• MyVariant Identifiers: chr16:g.14041585T>C (hg19) ; chr16:g.13947728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947728T>C , CM000678.2:g.13947728T>C	GRCh38
NC_000016.9:g.14041585T>C , CM000678.1:g.14041585T>C	GRCh37
NC_000016.8:g.13949086T>C	NCBI36
NG_011442.1:g.32572T>C , LRG_463:g.32572T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2270T>C	ENSP00000507912.1:p.Leu757Ser
ENST00000683962.1:c.*1826T>C	ENSP00000506854.1:n.*1826T>C
ENST00000311895.8:c.2132T>C MANE Select	ENSP00000310520.7:p.Leu711Ser
ENST00000311895.7:c.2132T>C	ENSP00000310520.7:p.Leu711Ser
ENST00000389138.7:n.1409T>C
ENST00000462862.1:c.445T>C	ENSP00000461322.1:n.445T>C
NM_005236.2:c.2132T>C , LRG_463t1:c.2132T>C	NP_005227.1:p.Leu711Ser
XM_011522424.1:c.2270T>C	XP_011520726.1:p.Leu757Ser
XM_011522425.1:c.1589T>C	XP_011520727.1:p.Leu530Ser
XM_011522426.1:c.1343T>C	XP_011520728.1:p.Leu448Ser
XM_011522427.1:c.782T>C	XP_011520729.1:p.Leu261Ser
XR_932805.1:n.2291T>C
XM_011522424.3:c.2270T>C	XP_011520726.1:p.Leu757Ser
XM_017023043.2:c.1343T>C	XP_016878532.1:p.Leu448Ser
NM_005236.3:c.2132T>C MANE Select	NP_005227.1:p.Leu711Ser