Canonical Allele Identifier: CA856697453
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs1374411448
gnomAD v3: 8-90083278-C-A
gnomAD v4: 8-90083278-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083278C>A , CM000670.2:g.90083278C>A GRCh38
NC_000008.10:g.91095506C>A , CM000670.1:g.91095506C>A GRCh37
NC_000008.9:g.91164682C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000514406.2:c.-92-1176G>T ENSP00000430192.1:n.-92-1176G>T
ENST00000520613.5:c.-92-1176G>T ENSP00000430281.1:n.-92-1176G>T
ENST00000523716.5:c.-92-1176G>T ENSP00000429246.1:n.-92-1176G>T