Canonical Allele Identifier: CA10611036

Gene: CLDN19

Linked Data

• ClinVar Variation Id: 297315
• ClinVar RCV Id: RCV000321064
• dbSNP Id: rs138082769
• gnomAD v2: 1-43198997-G-A
• gnomAD v3: 1-42733326-G-A
• gnomAD v4: 1-42733326-G-A
• MyVariant Identifiers: chr1:g.43198997G>A (hg19) ; chr1:g.42733326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42733326G>A , CM000663.2:g.42733326G>A	GRCh38
NC_000001.10:g.43198997G>A , CM000663.1:g.43198997G>A	GRCh37
NC_000001.9:g.42971584G>A	NCBI36
NG_008993.1:g.11929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296387.6:c.*1760C>T MANE Select	ENSP00000296387.1:n.*1760C>T
ENST00000296387.5:c.*1760C>T	ENSP00000296387.1:n.*1760C>T
ENST00000539749.5:c.*2436C>T	ENSP00000443229.1:n.*2436C>T
NM_001123395.1:c.*2542C>T	NP_001116867.1:n.*2542C>T
NM_001185117.1:c.*2436C>T	NP_001172046.1:n.*2436C>T
NM_148960.2:c.*1760C>T	NP_683763.2:n.*1760C>T
NM_001123395.2:c.*2542C>T	NP_001116867.1:n.*2542C>T
NM_148960.3:c.*1760C>T MANE Select	NP_683763.2:n.*1760C>T
NM_001185117.2:c.*2436C>T	NP_001172046.1:n.*2436C>T