Canonical Allele Identifier: CA10652939

Gene: CLDN14 CLDN14-AS1

Linked Data

• ClinVar Variation Id: 339906
• ClinVar RCV Id: RCV000272665
• dbSNP Id: rs886057055
• gnomAD v3: 21-36479905-G-A
• gnomAD v4: 21-36479905-G-A
• MyVariant Identifiers: chr21:g.37852203G>A (hg19) ; chr21:g.36479905G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36479905G>A , CM000683.2:g.36479905G>A	GRCh38
NC_000021.8:g.37852203G>A , CM000683.1:g.37852203G>A	GRCh37
NC_000021.7:g.36774073G>A	NCBI36
NG_011777.1:g.101665C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399135.6:c.-492C>T (CLDN14) MANE Select	ENSP00000382087.1:n.-492C>T
ENST00000342108.2:c.-81-18129C>T (CLDN14)	ENSP00000339292.2:n.-81-18129C>T
ENST00000399135.5:c.-492C>T (CLDN14)	ENSP00000382087.1:n.-492C>T
ENST00000399136.5:c.-81-18129C>T (CLDN14)	ENSP00000382088.1:n.-81-18129C>T
ENST00000399137.5:c.-682C>T (CLDN14)	ENSP00000382090.1:n.-682C>T
NM_001146077.1:c.-81-18129C>T (CLDN14)	NP_001139549.1:n.-81-18129C>T
NM_001146078.2:c.-81-18129C>T (CLDN14)	NP_001139550.1:n.-81-18129C>T
NM_001146079.1:c.-492C>T (CLDN14)	NP_001139551.1:n.-492C>T
NM_144492.2:c.-682C>T (CLDN14)	NP_652763.1:n.-682C>T
XM_011529519.1:c.-81-18129C>T (CLDN14)	XP_011527821.1:n.-81-18129C>T
XR_937694.1:n.962-326G>A (CLDN14-AS1)
XR_937695.1:n.469-326G>A (CLDN14-AS1)
XR_937696.1:n.853-326G>A (CLDN14-AS1)
XR_001755024.1:n.1022-326G>A (CLDN14-AS1)
XR_001755025.1:n.469-326G>A (CLDN14-AS1)
NM_001146079.2:c.-492C>T (CLDN14) MANE Select	NP_001139551.1:n.-492C>T
NM_001146078.3:c.-81-18129C>T (CLDN14)	NP_001139550.1:n.-81-18129C>T
NM_144492.3:c.-682C>T (CLDN14)	NP_652763.1:n.-682C>T
NM_001146077.2:c.-81-18129C>T (CLDN14)	NP_001139549.1:n.-81-18129C>T