Canonical Allele Identifier: CA673918875
Gene: SPON1 HGNC NCBI

Linked Data

dbSNP Id: rs1159084647
gnomAD v3: 11-14076857-A-G
gnomAD v4: 11-14076857-A-G
MyVariant Identifiers: chr11:g.14076857A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14076857A>G , CM000673.2:g.14076857A>G GRCh38
NC_000011.9:g.14098404A>G , CM000673.1:g.14098404A>G GRCh37
NC_000011.8:g.14054980A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000576479.4:c.553+1439A>G MANE Select ENSP00000460236.1:n.553+1439A>G
ENST00000576479.3:c.553+1439A>G ENSP00000460236.1:n.553+1439A>G
NM_006108.3:c.553+1439A>G NP_006099.2:n.553+1439A>G
NM_006108.4:c.553+1439A>G MANE Select NP_006099.2:n.553+1439A>G
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