Canonical Allele Identifier: CA2701724
Gene: SLC7A14 HGNC NCBI
CLDN11 HGNC NCBI
SLC7A14-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 956864
ClinVar RCV Id: RCV001229745 RCV004032677
dbSNP Id: rs750028108
ExAC: 3:170201145 G / A
gnomAD v2: 3-170201145-G-A
gnomAD v3: 3-170483356-G-A
gnomAD v4: 3-170483356-G-A
MyVariant Identifiers: chr3:g.170201145G>A (hg19) chr3:g.170483356G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.170483356G>A , CM000665.2:g.170483356G>A GRCh38
NC_000003.11:g.170201145G>A , CM000665.1:g.170201145G>A GRCh37
NC_000003.10:g.171683839G>A NCBI36
NG_034121.1:g.107719C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000231706.6:c.1073C>T (SLC7A14) MANE Select ENSP00000231706.4:p.Pro358Leu
ENST00000231706.5:c.1073C>T (SLC7A14) ENSP00000231706.4:p.Pro358Leu
ENST00000471373.5:n.373-19455G>A (CLDN11)
ENST00000480067.1:n.218+6483G>A (CLDN11)
ENST00000486975.1:c.391+60029G>A (CLDN11) ENSP00000417434.1:n.391+60029G>A
NM_020949.2:c.1073C>T (SLC7A14) NP_066000.2:p.Pro358Leu
XM_011513058.1:c.146C>T (SLC7A14) XP_011511360.1:p.Pro49Leu
NR_135555.1:n.215+6483G>A (SLC7A14-AS1)
NR_135556.1:n.215+6483G>A (SLC7A14-AS1)
NR_135557.1:n.221+6483G>A (SLC7A14-AS1)
NM_020949.3:c.1073C>T (SLC7A14) MANE Select NP_066000.2:p.Pro358Leu
Search 100 bp 5'
Search 100 bp 3'