Canonical Allele Identifier: CA394823384

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041844A>C (hg19) ; chr16:g.13947987A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947987A>C , CM000678.2:g.13947987A>C	GRCh38
NC_000016.9:g.14041844A>C , CM000678.1:g.14041844A>C	GRCh37
NC_000016.8:g.13949345A>C	NCBI36
NG_011442.1:g.32831A>C , LRG_463:g.32831A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2529A>C	ENSP00000507912.1:p.Arg843Ser
ENST00000683962.1:c.*2085A>C	ENSP00000506854.1:n.*2085A>C
ENST00000311895.8:c.2391A>C MANE Select	ENSP00000310520.7:p.Arg797Ser
ENST00000311895.7:c.2391A>C	ENSP00000310520.7:p.Arg797Ser
ENST00000389138.7:n.1668A>C
ENST00000462862.1:c.704A>C	ENSP00000461322.1:n.704A>C
NM_005236.2:c.2391A>C , LRG_463t1:c.2391A>C	NP_005227.1:p.Arg797Ser
XM_011522424.1:c.2529A>C	XP_011520726.1:p.Arg843Ser
XM_011522425.1:c.1848A>C	XP_011520727.1:p.Arg616Ser
XM_011522426.1:c.1602A>C	XP_011520728.1:p.Arg534Ser
XM_011522427.1:c.1041A>C	XP_011520729.1:p.Arg347Ser
XR_932805.1:n.2550A>C
XM_011522424.3:c.2529A>C	XP_011520726.1:p.Arg843Ser
XM_017023043.2:c.1602A>C	XP_016878532.1:p.Arg534Ser
NM_005236.3:c.2391A>C MANE Select	NP_005227.1:p.Arg797Ser