Canonical Allele Identifier: CA718304847

Gene: ERCC4

Linked Data

• dbSNP Id: rs1303361112
• gnomAD v3: 16-13947532-C-T
• gnomAD v4: 16-13947532-C-T
• MyVariant Identifiers: chr16:g.14041389C>T (hg19) ; chr16:g.13947532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947532C>T , CM000678.2:g.13947532C>T	GRCh38
NC_000016.9:g.14041389C>T , CM000678.1:g.14041389C>T	GRCh37
NC_000016.8:g.13948890C>T	NCBI36
NG_011442.1:g.32376C>T , LRG_463:g.32376C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2156-82C>T	ENSP00000507912.1:n.2156-82C>T
ENST00000683962.1:c.*1712-82C>T	ENSP00000506854.1:n.*1712-82C>T
ENST00000311895.8:c.2018-82C>T MANE Select	ENSP00000310520.7:n.2018-82C>T
ENST00000311895.7:c.2018-82C>T	ENSP00000310520.7:n.2018-82C>T
ENST00000389138.7:n.1295-82C>T
ENST00000462862.1:c.331-82C>T	ENSP00000461322.1:n.331-82C>T
NM_005236.2:c.2018-82C>T , LRG_463t1:c.2018-82C>T	NP_005227.1:n.2018-82C>T
XM_011522424.1:c.2156-82C>T	XP_011520726.1:n.2156-82C>T
XM_011522425.1:c.1475-82C>T	XP_011520727.1:n.1475-82C>T
XM_011522426.1:c.1229-82C>T	XP_011520728.1:n.1229-82C>T
XM_011522427.1:c.668-82C>T	XP_011520729.1:n.668-82C>T
XR_932805.1:n.2177-82C>T
XM_011522424.3:c.2156-82C>T	XP_011520726.1:n.2156-82C>T
XM_017023043.2:c.1229-82C>T	XP_016878532.1:n.1229-82C>T
NM_005236.3:c.2018-82C>T MANE Select	NP_005227.1:n.2018-82C>T