Canonical Allele Identifier: CA871179
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 1187435
ClinVar RCV Id: RCV001546876
dbSNP Id: rs373918982
ExAC: 1:55464816 C / T
gnomAD v2: 1-55464816-C-T
gnomAD v3: 1-54999143-C-T
gnomAD v4: 1-54999143-C-T
MyVariant Identifiers: chr1:g.55464816C>T (hg19) chr1:g.54999143C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999143C>T , CM000663.2:g.54999143C>T GRCh38
NC_000001.10:g.55464816C>T , CM000663.1:g.55464816C>T GRCh37
NC_000001.9:g.55237404C>T NCBI36
NG_008965.1:g.5200C>T
NG_008965.2:g.5211C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-44C>T MANE Select ENSP00000498282.1:n.-44C>T
ENST00000371265.4:c.-44C>T ENSP00000360312.4:n.-44C>T
NM_057176.2:c.-44C>T NP_476517.1:n.-44C>T
NM_057176.3:c.-44C>T MANE Select NP_476517.1:n.-44C>T
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