Canonical Allele Identifier: CA13374429

Gene: SPON1

Linked Data

• dbSNP Id: rs1819084
• gnomAD v2: 11-13996155-C-A
• gnomAD v3: 11-13974608-C-A
• gnomAD v4: 11-13974608-C-A
• MyVariant Identifiers: chr11:g.13996155C>A (hg19) ; chr11:g.13974608C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13974608C>A , CM000673.2:g.13974608C>A	GRCh38
NC_000011.9:g.13996155C>A , CM000673.1:g.13996155C>A	GRCh37
NC_000011.8:g.13952731C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000576479.4:c.239-8239C>A MANE Select	ENSP00000460236.1:n.239-8239C>A
ENST00000576479.3:c.239-8239C>A	ENSP00000460236.1:n.239-8239C>A
NM_006108.3:c.239-8239C>A	NP_006099.2:n.239-8239C>A
NM_006108.4:c.239-8239C>A MANE Select	NP_006099.2:n.239-8239C>A