Canonical Allele Identifier: CA181687805

Gene: CALB1

Linked Data

• dbSNP Id: rs773728064
• gnomAD v3: 8-90083145-G-A
• gnomAD v4: 8-90083145-G-A
• MyVariant Identifiers: chr8:g.91095373G>A (hg19) ; chr8:g.90083145G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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