Canonical Allele Identifier: CA12731912

Gene: CALB1

Linked Data

• dbSNP Id: rs1805874
• gnomAD v2: 8-91082062-A-C
• gnomAD v3: 8-90069834-A-C
• gnomAD v4: 8-90069834-A-C
• MyVariant Identifiers: chr8:g.91082062A>C (hg19) ; chr8:g.90069834A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.90069834A>C , CM000670.2:g.90069834A>C	GRCh38
NC_000008.10:g.91082062A>C , CM000670.1:g.91082062A>C	GRCh37
NC_000008.9:g.91151238A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000265431.7:c.232-597T>G MANE Select	ENSP00000265431.3:n.232-597T>G
ENST00000476853.1:n.466-597T>G
ENST00000482702.5:n.692-597T>G
ENST00000518457.5:c.61-597T>G	ENSP00000429602.1:n.61-597T>G
ENST00000520613.5:c.61-597T>G	ENSP00000430281.1:n.61-597T>G
ENST00000523716.5:c.61-597T>G	ENSP00000429246.1:n.61-597T>G
NM_004929.3:c.232-597T>G	NP_004920.1:n.232-597T>G
NM_001366795.1:c.157-597T>G	NP_001353724.1:n.157-597T>G
NM_004929.4:c.232-597T>G MANE Select	NP_004920.1:n.232-597T>G