Canonical Allele Identifier: CA181282969
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs1805874
gnomAD v2: 8-91082062-A-T
gnomAD v3: 8-90069834-A-T
gnomAD v4: 8-90069834-A-T
MyVariant Identifiers: chr8:g.91082062A>T (hg19) chr8:g.90069834A>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000265431.7:c.232-597T>A MANE Select ENSP00000265431.3:n.232-597T>A
ENST00000476853.1:n.466-597T>A
ENST00000482702.5:n.692-597T>A
ENST00000518457.5:c.61-597T>A ENSP00000429602.1:n.61-597T>A
ENST00000520613.5:c.61-597T>A ENSP00000430281.1:n.61-597T>A
ENST00000523716.5:c.61-597T>A ENSP00000429246.1:n.61-597T>A
NM_004929.3:c.232-597T>A NP_004920.1:n.232-597T>A
NM_001366795.1:c.157-597T>A NP_001353724.1:n.157-597T>A
NM_004929.4:c.232-597T>A MANE Select NP_004920.1:n.232-597T>A
Search 100 bp 5'
Search 100 bp 3'