Canonical Allele Identifier: CA394812436

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029480A>C (hg19) ; chr16:g.13935623A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935623A>C , CM000678.2:g.13935623A>C	GRCh38
NC_000016.9:g.14029480A>C , CM000678.1:g.14029480A>C	GRCh37
NC_000016.8:g.13936981A>C	NCBI36
NG_011442.1:g.20467A>C , LRG_463:g.20467A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1769A>C
ENST00000682617.1:c.1829A>C	ENSP00000507912.1:p.Tyr610Ser
ENST00000682826.1:c.*1005A>C	ENSP00000507274.1:n.*1005A>C
ENST00000682909.1:n.3731A>C
ENST00000683277.1:n.3336A>C
ENST00000683407.1:n.1699A>C
ENST00000683962.1:c.*1385A>C	ENSP00000506854.1:n.*1385A>C
ENST00000311895.8:c.1691A>C MANE Select	ENSP00000310520.7:p.Tyr564Ser
ENST00000311895.7:c.1691A>C	ENSP00000310520.7:p.Tyr564Ser
ENST00000389138.7:n.968A>C
NM_005236.2:c.1691A>C , LRG_463t1:c.1691A>C	NP_005227.1:p.Tyr564Ser
XM_011522424.1:c.1829A>C	XP_011520726.1:p.Tyr610Ser
XM_011522425.1:c.1148A>C	XP_011520727.1:p.Tyr383Ser
XM_011522426.1:c.902A>C	XP_011520728.1:p.Tyr301Ser
XM_011522427.1:c.341A>C	XP_011520729.1:p.Tyr114Ser
XR_932805.1:n.1850A>C
XM_011522424.3:c.1829A>C	XP_011520726.1:p.Tyr610Ser
XM_017023043.2:c.902A>C	XP_016878532.1:p.Tyr301Ser
NM_005236.3:c.1691A>C MANE Select	NP_005227.1:p.Tyr564Ser