Canonical Allele Identifier: CA394823016

Gene: ERCC4

Linked Data

• dbSNP Id: rs1174824817
• gnomAD v2: 16-14041774-C-T
• gnomAD v3: 16-13947917-C-T
• gnomAD v4: 16-13947917-C-T
• MyVariant Identifiers: chr16:g.14041774C>T (hg19) ; chr16:g.13947917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947917C>T , CM000678.2:g.13947917C>T	GRCh38
NC_000016.9:g.14041774C>T , CM000678.1:g.14041774C>T	GRCh37
NC_000016.8:g.13949275C>T	NCBI36
NG_011442.1:g.32761C>T , LRG_463:g.32761C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2459C>T	ENSP00000507912.1:p.Ala820Val
ENST00000683962.1:c.*2015C>T	ENSP00000506854.1:n.*2015C>T
ENST00000311895.8:c.2321C>T MANE Select	ENSP00000310520.7:p.Ala774Val
ENST00000311895.7:c.2321C>T	ENSP00000310520.7:p.Ala774Val
ENST00000389138.7:n.1598C>T
ENST00000462862.1:c.634C>T	ENSP00000461322.1:n.634C>T
NM_005236.2:c.2321C>T , LRG_463t1:c.2321C>T	NP_005227.1:p.Ala774Val
XM_011522424.1:c.2459C>T	XP_011520726.1:p.Ala820Val
XM_011522425.1:c.1778C>T	XP_011520727.1:p.Ala593Val
XM_011522426.1:c.1532C>T	XP_011520728.1:p.Ala511Val
XM_011522427.1:c.971C>T	XP_011520729.1:p.Ala324Val
XR_932805.1:n.2480C>T
XM_011522424.3:c.2459C>T	XP_011520726.1:p.Ala820Val
XM_017023043.2:c.1532C>T	XP_016878532.1:p.Ala511Val
NM_005236.3:c.2321C>T MANE Select	NP_005227.1:p.Ala774Val