Canonical Allele Identifier: CA278485764

Gene: ERCC4

Linked Data

• dbSNP Id: rs529976681
• gnomAD v2: 16-14042009-G-C
• gnomAD v4: 16-13948152-G-C
• MyVariant Identifiers: chr16:g.14042009G>C (hg19) ; chr16:g.13948152G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948152G>C , CM000678.2:g.13948152G>C	GRCh38
NC_000016.9:g.14042009G>C , CM000678.1:g.14042009G>C	GRCh37
NC_000016.8:g.13949510G>C	NCBI36
NG_011442.1:g.32996G>C , LRG_463:g.32996G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2694G>C	ENSP00000507912.1:p.Leu898Phe
ENST00000683962.1:c.*2250G>C	ENSP00000506854.1:n.*2250G>C
ENST00000311895.8:c.2556G>C MANE Select	ENSP00000310520.7:p.Leu852Phe
ENST00000311895.7:c.2556G>C	ENSP00000310520.7:p.Leu852Phe
ENST00000389138.7:n.1833G>C
NM_005236.2:c.2556G>C , LRG_463t1:c.2556G>C	NP_005227.1:p.Leu852Phe
XM_011522424.1:c.2694G>C	XP_011520726.1:p.Leu898Phe
XM_011522425.1:c.2013G>C	XP_011520727.1:p.Leu671Phe
XM_011522426.1:c.1767G>C	XP_011520728.1:p.Leu589Phe
XM_011522427.1:c.1206G>C	XP_011520729.1:p.Leu402Phe
XR_932805.1:n.2715G>C
XM_011522424.3:c.2694G>C	XP_011520726.1:p.Leu898Phe
XM_017023043.2:c.1767G>C	XP_016878532.1:p.Leu589Phe
NM_005236.3:c.2556G>C MANE Select	NP_005227.1:p.Leu852Phe