Canonical Allele Identifier: CA3555115

Gene: FOXI1

Linked Data

• ClinVar Variation Id: 352707
• ClinVar RCV Id: RCV000336670 ; RCV001861252
• dbSNP Id: rs145785746
• ExAC: 5:169535339 C / G
• gnomAD v2: 5-169535339-C-G
• gnomAD v3: 5-170108335-C-G
• gnomAD v4: 5-170108335-C-G
• MyVariant Identifiers: chr5:g.169535339C>G (hg19) ; chr5:g.170108335C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.170108335C>G , CM000667.2:g.170108335C>G	GRCh38
NC_000005.9:g.169535339C>G , CM000667.1:g.169535339C>G	GRCh37
NC_000005.8:g.169467917C>G	NCBI36
NG_012068.1:g.7423C>G
NG_012068.2:g.7423C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306268.8:c.861C>G MANE Select	ENSP00000304286.5:p.Ala287=
ENST00000449804.4:c.576C>G	ENSP00000415483.2:p.Ala192=
ENST00000306268.6:c.861C>G	ENSP00000304286.5:p.Ala287=
ENST00000449804.3:c.576C>G	ENSP00000415483.2:p.Ala192=
NM_012188.4:c.861C>G	NP_036320.2:p.Ala287=
NM_144769.2:c.576C>G	NP_658982.1:p.Ala192=
NM_012188.5:c.861C>G MANE Select	NP_036320.2:p.Ala287=
NM_144769.3:c.576C>G	NP_658982.1:p.Ala192=
NM_144769.4:c.576C>G	NP_658982.1:p.Ala192=