Canonical Allele Identifier: CA493690198

Gene: ERCC4

Linked Data

• dbSNP Id: rs1304540783
• gnomAD v2: 16-14042007-T-C
• gnomAD v4: 16-13948150-T-C
• MyVariant Identifiers: chr16:g.14042007T>C (hg19) ; chr16:g.13948150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948150T>C , CM000678.2:g.13948150T>C	GRCh38
NC_000016.9:g.14042007T>C , CM000678.1:g.14042007T>C	GRCh37
NC_000016.8:g.13949508T>C	NCBI36
NG_011442.1:g.32994T>C , LRG_463:g.32994T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2692T>C	ENSP00000507912.1:p.Leu898=
ENST00000683962.1:c.*2248T>C	ENSP00000506854.1:n.*2248T>C
ENST00000311895.8:c.2554T>C MANE Select	ENSP00000310520.7:p.Leu852=
ENST00000311895.7:c.2554T>C	ENSP00000310520.7:p.Leu852=
ENST00000389138.7:n.1831T>C
NM_005236.2:c.2554T>C , LRG_463t1:c.2554T>C	NP_005227.1:p.Leu852=
XM_011522424.1:c.2692T>C	XP_011520726.1:p.Leu898=
XM_011522425.1:c.2011T>C	XP_011520727.1:p.Leu671=
XM_011522426.1:c.1765T>C	XP_011520728.1:p.Leu589=
XM_011522427.1:c.1204T>C	XP_011520729.1:p.Leu402=
XR_932805.1:n.2713T>C
XM_011522424.3:c.2692T>C	XP_011520726.1:p.Leu898=
XM_017023043.2:c.1765T>C	XP_016878532.1:p.Leu589=
NM_005236.3:c.2554T>C MANE Select	NP_005227.1:p.Leu852=