Canonical Allele Identifier: CA583563980
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs1386514052
gnomAD v2: 8-91095391-T-C
gnomAD v3: 8-90083163-T-C
gnomAD v4: 8-90083163-T-C
MyVariant Identifiers: chr8:g.91095391T>C (hg19) chr8:g.90083163T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083163T>C , CM000670.2:g.90083163T>C GRCh38
NC_000008.10:g.91095391T>C , CM000670.1:g.91095391T>C GRCh37
NC_000008.9:g.91164567T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000514406.2:c.-92-1061A>G ENSP00000430192.1:n.-92-1061A>G
ENST00000520613.5:c.-92-1061A>G ENSP00000430281.1:n.-92-1061A>G
ENST00000523716.5:c.-92-1061A>G ENSP00000429246.1:n.-92-1061A>G
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