Canonical Allele Identifier: CA181687819
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs571708829
gnomAD v3: 8-90083246-G-T
gnomAD v4: 8-90083246-G-T
MyVariant Identifiers: chr8:g.91095474G>T (hg19) chr8:g.90083246G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083246G>T , CM000670.2:g.90083246G>T GRCh38
NC_000008.10:g.91095474G>T , CM000670.1:g.91095474G>T GRCh37
NC_000008.9:g.91164650G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000514406.2:c.-92-1144C>A ENSP00000430192.1:n.-92-1144C>A
ENST00000520613.5:c.-92-1144C>A ENSP00000430281.1:n.-92-1144C>A
ENST00000523716.5:c.-92-1144C>A ENSP00000429246.1:n.-92-1144C>A
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