Canonical Allele Identifier: CA394804503

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14024658T>C (hg19) ; chr16:g.13930801T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13930801T>C , CM000678.2:g.13930801T>C	GRCh38
NC_000016.9:g.14024658T>C , CM000678.1:g.14024658T>C	GRCh37
NC_000016.8:g.13932159T>C	NCBI36
NG_011442.1:g.15645T>C , LRG_463:g.15645T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.872T>C
ENST00000682568.1:n.962T>C
ENST00000682617.1:c.1022T>C	ENSP00000507912.1:p.Leu341Pro
ENST00000682826.1:c.*198T>C	ENSP00000507274.1:n.*198T>C
ENST00000682909.1:n.2924T>C
ENST00000683277.1:n.2529T>C
ENST00000683407.1:n.892T>C
ENST00000683962.1:c.*578T>C	ENSP00000506854.1:n.*578T>C
ENST00000311895.8:c.884T>C MANE Select	ENSP00000310520.7:p.Leu295Pro
ENST00000311895.7:c.884T>C	ENSP00000310520.7:p.Leu295Pro
ENST00000574194.1:c.411T>C
ENST00000574781.1:n.561T>C
ENST00000575156.5:c.884T>C	ENSP00000459933.1:p.Leu295Pro
NM_005236.2:c.884T>C , LRG_463t1:c.884T>C	NP_005227.1:p.Leu295Pro
XM_011522424.1:c.1022T>C	XP_011520726.1:p.Leu341Pro
XM_011522425.1:c.341T>C	XP_011520727.1:p.Leu114Pro
XM_011522426.1:c.95T>C	XP_011520728.1:p.Leu32Pro
XR_932805.1:n.1043T>C
XM_011522424.3:c.1022T>C	XP_011520726.1:p.Leu341Pro
XM_017023043.2:c.95T>C	XP_016878532.1:p.Leu32Pro
NM_005236.3:c.884T>C MANE Select	NP_005227.1:p.Leu295Pro