Canonical Allele Identifier: CA14885948
Gene: CLDN14 HGNC NCBI
CLDN14-AS1 HGNC NCBI
dbSNP:
219741
gnomAD v2:
21:37853036 C / T
gnomAD v3:
21:36480738 C / T
gnomAD v4:
chr21-36480738-C-T
Joint Max Group AF 0.56446164 (AFR)
Genomes Max Group AF 0.56446164 (AFR)
MyVariant.info:
GRCh38 chr21:g.36480738C>T
GRCh37 chr21:g.37853036C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36480738C>T , CM000683.2:g.36480738C>T GRCh38
NC_000021.8:g.37853036C>T , CM000683.1:g.37853036C>T GRCh37
NC_000021.7:g.36774906C>T NCBI36
NG_011777.1:g.100832G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342108.2:c.-81-18962G>A (CLDN14) ENSP00000339292.2:n.-81-18962G>A
ENST00000399136.5:c.-81-18962G>A (CLDN14) ENSP00000382088.1:n.-81-18962G>A
NM_001146077.1:c.-81-18962G>A (CLDN14) NP_001139549.1:n.-81-18962G>A
NM_001146078.2:c.-81-18962G>A (CLDN14) NP_001139550.1:n.-81-18962G>A
XM_011529519.1:c.-81-18962G>A (CLDN14) XP_011527821.1:n.-81-18962G>A
XR_937694.1:n.1469C>T (CLDN14-AS1)
XR_937695.1:n.976C>T (CLDN14-AS1)
XR_937696.1:n.1360C>T (CLDN14-AS1)
XR_001755024.1:n.1529C>T (CLDN14-AS1)
XR_001755025.1:n.976C>T (CLDN14-AS1)
NM_001146078.3:c.-81-18962G>A (CLDN14) NP_001139550.1:n.-81-18962G>A
NM_001146077.2:c.-81-18962G>A (CLDN14) NP_001139549.1:n.-81-18962G>A
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