Canonical Allele Identifier: CA1204817

Gene: NECTIN4

Linked Data

• ClinVar Variation Id: 418440
• ClinVar RCV Id: RCV000481238 ; RCV000509115 ; RCV003932776
• dbSNP Id: rs1537044
• ExAC: 1:161042657 G / A
• gnomAD v2: 1-161042657-G-A
• gnomAD v3: 1-161072867-G-A
• gnomAD v4: 1-161072867-G-A
• MyVariant Identifiers: chr1:g.161042657G>A (hg19) ; chr1:g.161072867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161072867G>A , CM000663.2:g.161072867G>A	GRCh38
NC_000001.10:g.161042657G>A , CM000663.1:g.161042657G>A	GRCh37
NC_000001.9:g.159309281G>A	NCBI36
NG_028109.1:g.21729C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368012.4:c.1327C>T MANE Select	ENSP00000356991.3:p.Arg443Cys
ENST00000368012.3:c.1327C>T	ENSP00000356991.3:p.Arg443Cys
ENST00000486694.1:n.137C>T
NM_030916.2:c.1327C>T	NP_112178.2:p.Arg443Cys
XM_005245508.2:c.1252C>T	XP_005245565.1:p.Arg418Cys
XM_011510021.1:c.1330C>T	XP_011508323.1:p.Arg444Cys
XM_011510022.1:c.1255C>T	XP_011508324.1:p.Arg419Cys
XM_011510023.1:c.*14C>T	XP_011508325.1:n.*14C>T
XM_005245508.3:c.1252C>T	XP_005245565.1:p.Arg418Cys
XM_011510021.2:c.1330C>T	XP_011508323.1:p.Arg444Cys
XM_011510022.2:c.1255C>T	XP_011508324.1:p.Arg419Cys
NM_030916.3:c.1327C>T MANE Select	NP_112178.2:p.Arg443Cys