Canonical Allele Identifier: CA181687807
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs961724919
gnomAD v2: 8-91095380-A-C
MyVariant Identifiers: chr8:g.91095380A>C (hg19) chr8:g.90083152A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083152A>C , CM000670.2:g.90083152A>C GRCh38
NC_000008.10:g.91095380A>C , CM000670.1:g.91095380A>C GRCh37
NC_000008.9:g.91164556A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000514406.2:c.-92-1050T>G ENSP00000430192.1:n.-92-1050T>G
ENST00000520613.5:c.-92-1050T>G ENSP00000430281.1:n.-92-1050T>G
ENST00000523716.5:c.-92-1050T>G ENSP00000429246.1:n.-92-1050T>G
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