Canonical Allele Identifier: CA383281851

Gene: NECTIN1

Linked Data

• dbSNP Id: rs1485290152
• gnomAD v2: 11-119548348-C-G
• gnomAD v4: 11-119677638-C-G
• MyVariant Identifiers: chr11:g.119548348C>G (hg19) ; chr11:g.119677638C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119677638C>G , CM000673.2:g.119677638C>G	GRCh38
NC_000011.9:g.119548348C>G , CM000673.1:g.119548348C>G	GRCh37
NC_000011.8:g.119053558C>G	NCBI36
NG_013083.1:g.56088G>C
NG_013083.2:g.56088G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531468.2:c.650G>C	ENSP00000513010.1:p.Arg217Thr
ENST00000264025.8:c.650G>C MANE Select	ENSP00000264025.3:p.Arg217Thr
ENST00000264025.7:c.650G>C	ENSP00000264025.3:p.Arg217Thr
ENST00000340882.2:c.650G>C	ENSP00000345289.2:p.Arg217Thr
ENST00000341398.6:c.650G>C	ENSP00000344974.2:p.Arg217Thr
ENST00000524510.1:n.624G>C
NM_002855.4:c.650G>C	NP_002846.3:p.Arg217Thr
NM_203285.1:c.650G>C	NP_976030.1:p.Arg217Thr
NM_203286.1:c.650G>C	NP_976031.1:p.Arg217Thr
NM_002855.5:c.650G>C MANE Select	NP_002846.3:p.Arg217Thr
NM_203285.2:c.650G>C	NP_976030.1:p.Arg217Thr
NM_203286.2:c.650G>C	NP_976031.1:p.Arg217Thr