Canonical Allele Identifier: CA10019295

Gene: CLDN14 CLDN14-AS1

Linked Data

• ClinVar Variation Id: 339891
• ClinVar RCV Id: RCV000378498 ; RCV003320632
• dbSNP Id: rs371106978
• ExAC: 21:37833699 C / T
• gnomAD v2: 21-37833699-C-T
• gnomAD v3: 21-36461401-C-T
• gnomAD v4: 21-36461401-C-T
• MyVariant Identifiers: chr21:g.37833699C>T (hg19) ; chr21:g.36461401C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36461401C>T , CM000683.2:g.36461401C>T	GRCh38
NC_000021.8:g.37833699C>T , CM000683.1:g.37833699C>T	GRCh37
NC_000021.7:g.36755569C>T	NCBI36
NG_011777.1:g.120169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399135.6:c.295G>A (CLDN14) MANE Select	ENSP00000382087.1:p.Val99Ile
ENST00000342108.2:c.295G>A (CLDN14)	ENSP00000339292.2:p.Val99Ile
ENST00000399135.5:c.295G>A (CLDN14)	ENSP00000382087.1:p.Val99Ile
ENST00000399136.5:c.295G>A (CLDN14)	ENSP00000382088.1:p.Val99Ile
ENST00000399137.5:c.295G>A (CLDN14)	ENSP00000382090.1:p.Val99Ile
ENST00000399139.5:c.295G>A (CLDN14)	ENSP00000382092.1:p.Val99Ile
NM_001146077.1:c.295G>A (CLDN14)	NP_001139549.1:p.Val99Ile
NM_001146078.2:c.295G>A (CLDN14)	NP_001139550.1:p.Val99Ile
NM_001146079.1:c.295G>A (CLDN14)	NP_001139551.1:p.Val99Ile
NM_012130.3:c.295G>A (CLDN14)	NP_036262.1:p.Val99Ile
NM_144492.2:c.295G>A (CLDN14)	NP_652763.1:p.Val99Ile
XM_011529519.1:c.295G>A (CLDN14)	XP_011527821.1:p.Val99Ile
XR_937694.1:n.468+15394C>T (CLDN14-AS1)
XR_937695.1:n.468+15394C>T (CLDN14-AS1)
XR_937696.1:n.468+15394C>T (CLDN14-AS1)
XR_001755025.1:n.468+15394C>T (CLDN14-AS1)
NM_001146079.2:c.295G>A (CLDN14) MANE Select	NP_001139551.1:p.Val99Ile
NM_001146078.3:c.295G>A (CLDN14)	NP_001139550.1:p.Val99Ile
NM_012130.4:c.295G>A (CLDN14)	NP_036262.1:p.Val99Ile
NM_144492.3:c.295G>A (CLDN14)	NP_652763.1:p.Val99Ile
NM_001146077.2:c.295G>A (CLDN14)	NP_001139549.1:p.Val99Ile