Canonical Allele Identifier: CA394817405

Gene: ERCC4

Linked Data

• dbSNP Id: rs1299031778
• gnomAD v2: 16-14038595-G-C
• gnomAD v4: 16-13944738-G-C
• MyVariant Identifiers: chr16:g.14038595G>C (hg19) ; chr16:g.13944738G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944738G>C , CM000678.2:g.13944738G>C	GRCh38
NC_000016.9:g.14038595G>C , CM000678.1:g.14038595G>C	GRCh37
NC_000016.8:g.13946096G>C	NCBI36
NG_011442.1:g.29582G>C , LRG_463:g.29582G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2058G>C	ENSP00000507912.1:p.Met686Ile
ENST00000683962.1:c.*1614G>C	ENSP00000506854.1:n.*1614G>C
ENST00000311895.8:c.1920G>C MANE Select	ENSP00000310520.7:p.Met640Ile
ENST00000311895.7:c.1920G>C	ENSP00000310520.7:p.Met640Ile
ENST00000389138.7:n.1197G>C
ENST00000462862.1:c.233G>C	ENSP00000461322.1:n.233G>C
NM_005236.2:c.1920G>C , LRG_463t1:c.1920G>C	NP_005227.1:p.Met640Ile
XM_011522424.1:c.2058G>C	XP_011520726.1:p.Met686Ile
XM_011522425.1:c.1377G>C	XP_011520727.1:p.Met459Ile
XM_011522426.1:c.1131G>C	XP_011520728.1:p.Met377Ile
XM_011522427.1:c.570G>C	XP_011520729.1:p.Met190Ile
XR_932805.1:n.2079G>C
XM_011522424.3:c.2058G>C	XP_011520726.1:p.Met686Ile
XM_017023043.2:c.1131G>C	XP_016878532.1:p.Met377Ile
NM_005236.3:c.1920G>C MANE Select	NP_005227.1:p.Met640Ile