Canonical Allele Identifier: CA383281738

Gene: NECTIN1

Linked Data

• dbSNP Id: rs747086699
• gnomAD v3: 11-119677588-G-C
• gnomAD v4: 11-119677588-G-C
• MyVariant Identifiers: chr11:g.119548298G>C (hg19) ; chr11:g.119677588G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119677588G>C , CM000673.2:g.119677588G>C	GRCh38
NC_000011.9:g.119548298G>C , CM000673.1:g.119548298G>C	GRCh37
NC_000011.8:g.119053508G>C	NCBI36
NG_013083.1:g.56138C>G
NG_013083.2:g.56138C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531468.2:c.700C>G	ENSP00000513010.1:p.Arg234Gly
ENST00000264025.8:c.700C>G MANE Select	ENSP00000264025.3:p.Arg234Gly
ENST00000264025.7:c.700C>G	ENSP00000264025.3:p.Arg234Gly
ENST00000340882.2:c.700C>G	ENSP00000345289.2:p.Arg234Gly
ENST00000341398.6:c.700C>G	ENSP00000344974.2:p.Arg234Gly
ENST00000524510.1:n.674C>G
ENST00000532197.1:n.14C>G
NM_002855.4:c.700C>G	NP_002846.3:p.Arg234Gly
NM_203285.1:c.700C>G	NP_976030.1:p.Arg234Gly
NM_203286.1:c.700C>G	NP_976031.1:p.Arg234Gly
NM_002855.5:c.700C>G MANE Select	NP_002846.3:p.Arg234Gly
NM_203285.2:c.700C>G	NP_976030.1:p.Arg234Gly
NM_203286.2:c.700C>G	NP_976031.1:p.Arg234Gly