Canonical Allele Identifier: CA12941692
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs2142093
gnomAD v2: 8-91095517-T-C
gnomAD v3: 8-90083289-T-C
gnomAD v4: 8-90083289-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083289T>C , CM000670.2:g.90083289T>C GRCh38
NC_000008.10:g.91095517T>C , CM000670.1:g.91095517T>C GRCh37
NC_000008.9:g.91164693T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000514406.2:c.-92-1187A>G ENSP00000430192.1:n.-92-1187A>G
ENST00000520613.5:c.-92-1187A>G ENSP00000430281.1:n.-92-1187A>G
ENST00000523716.5:c.-92-1187A>G ENSP00000429246.1:n.-92-1187A>G