Canonical Allele Identifier: CA673914433
Gene: SPON1 HGNC NCBI

Linked Data

dbSNP Id: rs1224415594
gnomAD v3: 11-13974685-C-G
gnomAD v4: 11-13974685-C-G
MyVariant Identifiers: chr11:g.13974685C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13974685C>G , CM000673.2:g.13974685C>G GRCh38
NC_000011.9:g.13996232C>G , CM000673.1:g.13996232C>G GRCh37
NC_000011.8:g.13952808C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000576479.4:c.239-8162C>G MANE Select ENSP00000460236.1:n.239-8162C>G
ENST00000576479.3:c.239-8162C>G ENSP00000460236.1:n.239-8162C>G
NM_006108.3:c.239-8162C>G NP_006099.2:n.239-8162C>G
NM_006108.4:c.239-8162C>G MANE Select NP_006099.2:n.239-8162C>G
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