Canonical Allele Identifier: CA6322025

Gene: NECTIN1

Linked Data

• dbSNP Id: rs772160830
• ExAC: 11:119548297 C / T
• gnomAD v2: 11-119548297-C-T
• gnomAD v3: 11-119677587-C-T
• gnomAD v4: 11-119677587-C-T
• MyVariant Identifiers: chr11:g.119548297C>T (hg19) ; chr11:g.119677587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119677587C>T , CM000673.2:g.119677587C>T	GRCh38
NC_000011.9:g.119548297C>T , CM000673.1:g.119548297C>T	GRCh37
NC_000011.8:g.119053507C>T	NCBI36
NG_013083.1:g.56139G>A
NG_013083.2:g.56139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531468.2:c.701G>A	ENSP00000513010.1:p.Arg234His
ENST00000264025.8:c.701G>A MANE Select	ENSP00000264025.3:p.Arg234His
ENST00000264025.7:c.701G>A	ENSP00000264025.3:p.Arg234His
ENST00000340882.2:c.701G>A	ENSP00000345289.2:p.Arg234His
ENST00000341398.6:c.701G>A	ENSP00000344974.2:p.Arg234His
ENST00000524510.1:n.675G>A
ENST00000532197.1:n.15G>A
NM_002855.4:c.701G>A	NP_002846.3:p.Arg234His
NM_203285.1:c.701G>A	NP_976030.1:p.Arg234His
NM_203286.1:c.701G>A	NP_976031.1:p.Arg234His
NM_002855.5:c.701G>A MANE Select	NP_002846.3:p.Arg234His
NM_203285.2:c.701G>A	NP_976030.1:p.Arg234His
NM_203286.2:c.701G>A	NP_976031.1:p.Arg234His