Canonical Allele Identifier: CA117103

Gene: CLDN14 CLDN14-AS1

Linked Data

• ClinVar Variation Id: 4851
• ClinVar RCV Id: RCV000005124 ; RCV000417186 ; RCV001291511
• dbSNP Id: rs74315437
• ExAC: 21:37833740 A / T
• gnomAD v2: 21-37833740-A-T
• gnomAD v3: 21-36461442-A-T
• gnomAD v4: 21-36461442-A-T
• MyVariant Identifiers: chr21:g.37833740A>T (hg19) ; chr21:g.36461442A>T (hg38)
• PubMed: PMID:11163249 ; PMID:15880785 ; PMID:22246673

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36461442A>T , CM000683.2:g.36461442A>T	GRCh38
NC_000021.8:g.37833740A>T , CM000683.1:g.37833740A>T	GRCh37
NC_000021.7:g.36755610A>T	NCBI36
NG_011777.1:g.120128T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399135.6:c.254T>A (CLDN14) MANE Select	ENSP00000382087.1:p.Val85Asp
ENST00000342108.2:c.254T>A (CLDN14)	ENSP00000339292.2:p.Val85Asp
ENST00000399135.5:c.254T>A (CLDN14)	ENSP00000382087.1:p.Val85Asp
ENST00000399136.5:c.254T>A (CLDN14)	ENSP00000382088.1:p.Val85Asp
ENST00000399137.5:c.254T>A (CLDN14)	ENSP00000382090.1:p.Val85Asp
ENST00000399139.5:c.254T>A (CLDN14)	ENSP00000382092.1:p.Val85Asp
NM_001146077.1:c.254T>A (CLDN14)	NP_001139549.1:p.Val85Asp
NM_001146078.2:c.254T>A (CLDN14)	NP_001139550.1:p.Val85Asp
NM_001146079.1:c.254T>A (CLDN14)	NP_001139551.1:p.Val85Asp
NM_012130.3:c.254T>A (CLDN14)	NP_036262.1:p.Val85Asp
NM_144492.2:c.254T>A (CLDN14)	NP_652763.1:p.Val85Asp
XM_011529519.1:c.254T>A (CLDN14)	XP_011527821.1:p.Val85Asp
XR_937694.1:n.468+15435A>T (CLDN14-AS1)
XR_937695.1:n.468+15435A>T (CLDN14-AS1)
XR_937696.1:n.468+15435A>T (CLDN14-AS1)
XR_001755025.1:n.468+15435A>T (CLDN14-AS1)
NM_001146079.2:c.254T>A (CLDN14) MANE Select	NP_001139551.1:p.Val85Asp
NM_001146078.3:c.254T>A (CLDN14)	NP_001139550.1:p.Val85Asp
NM_012130.4:c.254T>A (CLDN14)	NP_036262.1:p.Val85Asp
NM_144492.3:c.254T>A (CLDN14)	NP_652763.1:p.Val85Asp
NM_001146077.2:c.254T>A (CLDN14)	NP_001139549.1:p.Val85Asp