Canonical Allele Identifier: CA801486
Gene: CLDN19 HGNC NCBI

Linked Data

ClinVar Variation Id: 297347
ClinVar RCV Id: RCV000361997 RCV000969136
dbSNP Id: rs12065961
ExAC: 1:43205696 C / A
gnomAD v2: 1-43205696-C-A
gnomAD v3: 1-42740025-C-A
gnomAD v4: 1-42740025-C-A
MyVariant Identifiers: chr1:g.43205696C>A (hg19) chr1:g.42740025C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42740025C>A , CM000663.2:g.42740025C>A GRCh38
NC_000001.10:g.43205696C>A , CM000663.1:g.43205696C>A GRCh37
NC_000001.9:g.42978283C>A NCBI36
NG_008993.1:g.5230G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296387.6:c.39G>T MANE Select ENSP00000296387.1:p.Leu13Phe
ENST00000296387.5:c.39G>T ENSP00000296387.1:p.Leu13Phe
ENST00000372539.3:c.39G>T ENSP00000361617.3:p.Leu13Phe
ENST00000539749.5:c.39G>T ENSP00000443229.1:p.Leu13Phe
NM_001123395.1:c.39G>T NP_001116867.1:p.Leu13Phe
NM_001185117.1:c.39G>T NP_001172046.1:p.Leu13Phe
NM_148960.2:c.39G>T NP_683763.2:p.Leu13Phe
NM_001123395.2:c.39G>T NP_001116867.1:p.Leu13Phe
NM_148960.3:c.39G>T MANE Select NP_683763.2:p.Leu13Phe
NM_001185117.2:c.39G>T NP_001172046.1:p.Leu13Phe
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