Canonical Allele Identifier: CA181687810
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs915778060
gnomAD v2: 8-91095412-C-A
gnomAD v3: 8-90083184-C-A
gnomAD v4: 8-90083184-C-A
MyVariant Identifiers: chr8:g.91095412C>A (hg19) chr8:g.90083184C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083184C>A , CM000670.2:g.90083184C>A GRCh38
NC_000008.10:g.91095412C>A , CM000670.1:g.91095412C>A GRCh37
NC_000008.9:g.91164588C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000514406.2:c.-92-1082G>T ENSP00000430192.1:n.-92-1082G>T
ENST00000520613.5:c.-92-1082G>T ENSP00000430281.1:n.-92-1082G>T
ENST00000523716.5:c.-92-1082G>T ENSP00000429246.1:n.-92-1082G>T
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