Canonical Allele Identifier: CA673932172
Gene: SPON1 HGNC NCBI

Linked Data

dbSNP Id: rs1464148304
gnomAD v3: 11-14000010-T-C
gnomAD v4: 11-14000010-T-C
MyVariant Identifiers: chr11:g.14000010T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14000010T>C , CM000673.2:g.14000010T>C GRCh38
NC_000011.9:g.14021557T>C , CM000673.1:g.14021557T>C GRCh37
NC_000011.8:g.13978133T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000576479.4:c.345+17057T>C MANE Select ENSP00000460236.1:n.345+17057T>C
ENST00000576479.3:c.345+17057T>C ENSP00000460236.1:n.345+17057T>C
NM_006108.3:c.345+17057T>C NP_006099.2:n.345+17057T>C
NM_006108.4:c.345+17057T>C MANE Select NP_006099.2:n.345+17057T>C
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