Canonical Allele Identifier: CA181687806
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs773728064
gnomAD v3: 8-90083145-G-T
gnomAD v4: 8-90083145-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083145G>T , CM000670.2:g.90083145G>T GRCh38
NC_000008.10:g.91095373G>T , CM000670.1:g.91095373G>T GRCh37
NC_000008.9:g.91164549G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000514406.2:c.-92-1043C>A ENSP00000430192.1:n.-92-1043C>A
ENST00000520613.5:c.-92-1043C>A ENSP00000430281.1:n.-92-1043C>A
ENST00000523716.5:c.-92-1043C>A ENSP00000429246.1:n.-92-1043C>A