Canonical Allele Identifier: CA394823903

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 3090112
• ClinVar RCV Id: RCV004380531
• MyVariant Identifiers: chr16:g.14041907A>C (hg19) ; chr16:g.13948050A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948050A>C , CM000678.2:g.13948050A>C	GRCh38
NC_000016.9:g.14041907A>C , CM000678.1:g.14041907A>C	GRCh37
NC_000016.8:g.13949408A>C	NCBI36
NG_011442.1:g.32894A>C , LRG_463:g.32894A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2592A>C	ENSP00000507912.1:p.Gln864His
ENST00000683962.1:c.*2148A>C	ENSP00000506854.1:n.*2148A>C
ENST00000311895.8:c.2454A>C MANE Select	ENSP00000310520.7:p.Gln818His
ENST00000311895.7:c.2454A>C	ENSP00000310520.7:p.Gln818His
ENST00000389138.7:n.1731A>C
NM_005236.2:c.2454A>C , LRG_463t1:c.2454A>C	NP_005227.1:p.Gln818His
XM_011522424.1:c.2592A>C	XP_011520726.1:p.Gln864His
XM_011522425.1:c.1911A>C	XP_011520727.1:p.Gln637His
XM_011522426.1:c.1665A>C	XP_011520728.1:p.Gln555His
XM_011522427.1:c.1104A>C	XP_011520729.1:p.Gln368His
XR_932805.1:n.2613A>C
XM_011522424.3:c.2592A>C	XP_011520726.1:p.Gln864His
XM_017023043.2:c.1665A>C	XP_016878532.1:p.Gln555His
NM_005236.3:c.2454A>C MANE Select	NP_005227.1:p.Gln818His