Canonical Allele Identifier: CA856697439

Gene: CALB1

Linked Data

• dbSNP Id: rs1800645
• gnomAD v4: 8-90083245-A-G
• MyVariant Identifiers: chr8:g.91095473A>G (hg19) ; chr8:g.90083245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.90083245A>G , CM000670.2:g.90083245A>G	GRCh38
NC_000008.10:g.91095473A>G , CM000670.1:g.91095473A>G	GRCh37
NC_000008.9:g.91164649A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000514406.2:c.-92-1143T>C	ENSP00000430192.1:n.-92-1143T>C
ENST00000520613.5:c.-92-1143T>C	ENSP00000430281.1:n.-92-1143T>C
ENST00000523716.5:c.-92-1143T>C	ENSP00000429246.1:n.-92-1143T>C