Canonical Allele Identifier: CA394804494

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14024655T>A (hg19) ; chr16:g.13930798T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13930798T>A , CM000678.2:g.13930798T>A	GRCh38
NC_000016.9:g.14024655T>A , CM000678.1:g.14024655T>A	GRCh37
NC_000016.8:g.13932156T>A	NCBI36
NG_011442.1:g.15642T>A , LRG_463:g.15642T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.869T>A
ENST00000682568.1:n.959T>A
ENST00000682617.1:c.1019T>A	ENSP00000507912.1:p.Leu340Ter
ENST00000682826.1:c.*195T>A	ENSP00000507274.1:n.*195T>A
ENST00000682909.1:n.2921T>A
ENST00000683277.1:n.2526T>A
ENST00000683407.1:n.889T>A
ENST00000683962.1:c.*575T>A	ENSP00000506854.1:n.*575T>A
ENST00000311895.8:c.881T>A MANE Select	ENSP00000310520.7:p.Leu294Ter
ENST00000311895.7:c.881T>A	ENSP00000310520.7:p.Leu294Ter
ENST00000574194.1:c.408T>A
ENST00000574781.1:n.558T>A
ENST00000575156.5:c.881T>A	ENSP00000459933.1:p.Leu294Ter
NM_005236.2:c.881T>A , LRG_463t1:c.881T>A	NP_005227.1:p.Leu294Ter
XM_011522424.1:c.1019T>A	XP_011520726.1:p.Leu340Ter
XM_011522425.1:c.338T>A	XP_011520727.1:p.Leu113Ter
XM_011522426.1:c.92T>A	XP_011520728.1:p.Leu31Ter
XR_932805.1:n.1040T>A
XM_011522424.3:c.1019T>A	XP_011520726.1:p.Leu340Ter
XM_017023043.2:c.92T>A	XP_016878532.1:p.Leu31Ter
NM_005236.3:c.881T>A MANE Select	NP_005227.1:p.Leu294Ter