Canonical Allele Identifier: CA383282116

Gene: NECTIN1

Linked Data

• dbSNP Id: rs1440512634
• gnomAD v2: 11-119548475-C-T
• gnomAD v4: 11-119677765-C-T
• MyVariant Identifiers: chr11:g.119548475C>T (hg19) ; chr11:g.119677765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119677765C>T , CM000673.2:g.119677765C>T	GRCh38
NC_000011.9:g.119548475C>T , CM000673.1:g.119548475C>T	GRCh37
NC_000011.8:g.119053685C>T	NCBI36
NG_013083.1:g.55961G>A
NG_013083.2:g.55961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531468.2:c.523G>A	ENSP00000513010.1:p.Ala175Thr
ENST00000264025.8:c.523G>A MANE Select	ENSP00000264025.3:p.Ala175Thr
ENST00000264025.7:c.523G>A	ENSP00000264025.3:p.Ala175Thr
ENST00000340882.2:c.523G>A	ENSP00000345289.2:p.Ala175Thr
ENST00000341398.6:c.523G>A	ENSP00000344974.2:p.Ala175Thr
ENST00000524510.1:n.497G>A
NM_002855.4:c.523G>A	NP_002846.3:p.Ala175Thr
NM_203285.1:c.523G>A	NP_976030.1:p.Ala175Thr
NM_203286.1:c.523G>A	NP_976031.1:p.Ala175Thr
NM_002855.5:c.523G>A MANE Select	NP_002846.3:p.Ala175Thr
NM_203285.2:c.523G>A	NP_976030.1:p.Ala175Thr
NM_203286.2:c.523G>A	NP_976031.1:p.Ala175Thr