Canonical Allele Identifier: CA597781086

Gene: SPON1

Linked Data

• dbSNP Id: rs1266678582
• gnomAD v2: 11-13996085-T-C
• gnomAD v3: 11-13974538-T-C
• gnomAD v4: 11-13974538-T-C
• MyVariant Identifiers: chr11:g.13996085T>C (hg19) ; chr11:g.13974538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13974538T>C , CM000673.2:g.13974538T>C	GRCh38
NC_000011.9:g.13996085T>C , CM000673.1:g.13996085T>C	GRCh37
NC_000011.8:g.13952661T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000576479.4:c.239-8309T>C MANE Select	ENSP00000460236.1:n.239-8309T>C
ENST00000576479.3:c.239-8309T>C	ENSP00000460236.1:n.239-8309T>C
NM_006108.3:c.239-8309T>C	NP_006099.2:n.239-8309T>C
NM_006108.4:c.239-8309T>C MANE Select	NP_006099.2:n.239-8309T>C