Canonical Allele Identifier: CA3555109

Gene: FOXI1

Linked Data

• ClinVar Variation Id: 352706
• ClinVar RCV Id: RCV000377507 ; RCV000883148 ; RCV003932448
• dbSNP Id: rs149203108
• ExAC: 5:169535300 C / T
• gnomAD v2: 5-169535300-C-T
• gnomAD v3: 5-170108296-C-T
• gnomAD v4: 5-170108296-C-T
• MyVariant Identifiers: chr5:g.169535300C>T (hg19) ; chr5:g.170108296C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.170108296C>T , CM000667.2:g.170108296C>T	GRCh38
NC_000005.9:g.169535300C>T , CM000667.1:g.169535300C>T	GRCh37
NC_000005.8:g.169467878C>T	NCBI36
NG_012068.1:g.7384C>T
NG_012068.2:g.7384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306268.8:c.822C>T MANE Select	ENSP00000304286.5:p.Gly274=
ENST00000449804.4:c.575-38C>T	ENSP00000415483.2:n.575-38C>T
ENST00000306268.6:c.822C>T	ENSP00000304286.5:p.Gly274=
ENST00000449804.3:c.575-38C>T	ENSP00000415483.2:n.575-38C>T
NM_012188.4:c.822C>T	NP_036320.2:p.Gly274=
NM_144769.2:c.575-38C>T	NP_658982.1:n.575-38C>T
NM_012188.5:c.822C>T MANE Select	NP_036320.2:p.Gly274=
NM_144769.3:c.575-38C>T	NP_658982.1:n.575-38C>T
NM_144769.4:c.575-38C>T	NP_658982.1:n.575-38C>T