Canonical Allele Identifier: CA151152

Gene: SLC7A14 CLDN11 SLC7A14-AS1

Linked Data

• ClinVar Variation Id: 126448
• ClinVar RCV Id: RCV000114376 ; RCV000902663 ; RCV003888509 ; RCV003925105
• dbSNP Id: rs79668755
• ExAC: 3:170198680 C / A
• gnomAD v2: 3-170198680-C-A
• gnomAD v3: 3-170480891-C-A
• gnomAD v4: 3-170480891-C-A
• COSMIC: COSM4002511
• MyVariant Identifiers: chr3:g.170198680C>A (hg19) ; chr3:g.170480891C>A (hg38)
• PubMed: PMID:24670872

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170480891C>A , CM000665.2:g.170480891C>A	GRCh38
NC_000003.11:g.170198680C>A , CM000665.1:g.170198680C>A	GRCh37
NC_000003.10:g.171681374C>A	NCBI36
NG_034121.1:g.110184G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231706.6:c.1391G>T (SLC7A14) MANE Select	ENSP00000231706.4:p.Cys464Phe
ENST00000231706.5:c.1391G>T (SLC7A14)	ENSP00000231706.4:p.Cys464Phe
ENST00000471373.5:n.372+20479C>A (CLDN11)
ENST00000480067.1:n.218+4018C>A (CLDN11)
ENST00000486975.1:c.391+57564C>A (CLDN11)	ENSP00000417434.1:n.391+57564C>A
NM_020949.2:c.1391G>T (SLC7A14)	NP_066000.2:p.Cys464Phe
XM_011513058.1:c.464G>T (SLC7A14)	XP_011511360.1:p.Cys155Phe
NR_135555.1:n.215+4018C>A (SLC7A14-AS1)
NR_135556.1:n.215+4018C>A (SLC7A14-AS1)
NR_135557.1:n.221+4018C>A (SLC7A14-AS1)
NM_020949.3:c.1391G>T (SLC7A14) MANE Select	NP_066000.2:p.Cys464Phe