Canonical Allele Identifier: CA151150
Gene: SLC7A14 HGNC NCBI
CLDN11 HGNC NCBI
SLC7A14-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 126446
dbSNP Id: rs2276717

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.170483441C>T , CM000665.2:g.170483441C>T GRCh38
NC_000003.11:g.170201230C>T , CM000665.1:g.170201230C>T GRCh37
NC_000003.10:g.171683924C>T NCBI36
NG_034121.1:g.107634G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000231706.6:c.988G>A (SLC7A14) MANE Select ENSP00000231706.4:p.Gly330Arg
ENST00000231706.5:c.988G>A (SLC7A14) ENSP00000231706.4:p.Gly330Arg
ENST00000471373.5:n.373-19370C>T (CLDN11)
ENST00000480067.1:n.218+6568C>T (CLDN11)
ENST00000486975.1:c.391+60114C>T (CLDN11) ENSP00000417434.1:n.391+60114C>T
NM_020949.2:c.988G>A (SLC7A14) NP_066000.2:p.Gly330Arg
XM_011513058.1:c.61G>A (SLC7A14) XP_011511360.1:p.Gly21Arg
NR_135555.1:n.215+6568C>T (SLC7A14-AS1)
NR_135556.1:n.215+6568C>T (SLC7A14-AS1)
NR_135557.1:n.221+6568C>T (SLC7A14-AS1)
NM_020949.3:c.988G>A (SLC7A14) MANE Select NP_066000.2:p.Gly330Arg