Canonical Allele Identifier: CA856697398
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs1286615126
gnomAD v3: 8-90083126-C-T
gnomAD v4: 8-90083126-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083126C>T , CM000670.2:g.90083126C>T GRCh38
NC_000008.10:g.91095354C>T , CM000670.1:g.91095354C>T GRCh37
NC_000008.9:g.91164530C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000514406.2:c.-92-1024G>A ENSP00000430192.1:n.-92-1024G>A
ENST00000520613.5:c.-92-1024G>A ENSP00000430281.1:n.-92-1024G>A
ENST00000523716.5:c.-92-1024G>A ENSP00000429246.1:n.-92-1024G>A