Canonical Allele Identifier: CA383281780

Gene: NECTIN1

Linked Data

• dbSNP Id: rs200513188
• gnomAD v3: 11-119677606-C-A
• gnomAD v4: 11-119677606-C-A
• MyVariant Identifiers: chr11:g.119548316C>A (hg19) ; chr11:g.119677606C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119677606C>A , CM000673.2:g.119677606C>A	GRCh38
NC_000011.9:g.119548316C>A , CM000673.1:g.119548316C>A	GRCh37
NC_000011.8:g.119053526C>A	NCBI36
NG_013083.1:g.56120G>T
NG_013083.2:g.56120G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531468.2:c.682G>T	ENSP00000513010.1:p.Val228Phe
ENST00000264025.8:c.682G>T MANE Select	ENSP00000264025.3:p.Val228Phe
ENST00000264025.7:c.682G>T	ENSP00000264025.3:p.Val228Phe
ENST00000340882.2:c.682G>T	ENSP00000345289.2:p.Val228Phe
ENST00000341398.6:c.682G>T	ENSP00000344974.2:p.Val228Phe
ENST00000524510.1:n.656G>T
NM_002855.4:c.682G>T	NP_002846.3:p.Val228Phe
NM_203285.1:c.682G>T	NP_976030.1:p.Val228Phe
NM_203286.1:c.682G>T	NP_976031.1:p.Val228Phe
NM_002855.5:c.682G>T MANE Select	NP_002846.3:p.Val228Phe
NM_203285.2:c.682G>T	NP_976030.1:p.Val228Phe
NM_203286.2:c.682G>T	NP_976031.1:p.Val228Phe