Canonical Allele Identifier: CA856697452
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs1432543991
gnomAD v3: 8-90083273-C-A
gnomAD v4: 8-90083273-C-A
MyVariant Identifiers: chr8:g.91095501C>A (hg19) chr8:g.90083273C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083273C>A , CM000670.2:g.90083273C>A GRCh38
NC_000008.10:g.91095501C>A , CM000670.1:g.91095501C>A GRCh37
NC_000008.9:g.91164677C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000514406.2:c.-92-1171G>T ENSP00000430192.1:n.-92-1171G>T
ENST00000520613.5:c.-92-1171G>T ENSP00000430281.1:n.-92-1171G>T
ENST00000523716.5:c.-92-1171G>T ENSP00000429246.1:n.-92-1171G>T
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