Canonical Allele Identifier: CA3555112

Gene: FOXI1

Linked Data

• ClinVar Variation Id: 285399
• ClinVar RCV Id: RCV000328867 ; RCV000371853
• dbSNP Id: rs147596900
• ExAC: 5:169535303 C / T
• gnomAD v2: 5-169535303-C-T
• gnomAD v3: 5-170108299-C-T
• gnomAD v4: 5-170108299-C-T
• MyVariant Identifiers: chr5:g.169535303C>T (hg19) ; chr5:g.170108299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.170108299C>T , CM000667.2:g.170108299C>T	GRCh38
NC_000005.9:g.169535303C>T , CM000667.1:g.169535303C>T	GRCh37
NC_000005.8:g.169467881C>T	NCBI36
NG_012068.1:g.7387C>T
NG_012068.2:g.7387C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306268.8:c.825C>T MANE Select	ENSP00000304286.5:p.Ala275=
ENST00000449804.4:c.575-35C>T	ENSP00000415483.2:n.575-35C>T
ENST00000306268.6:c.825C>T	ENSP00000304286.5:p.Ala275=
ENST00000449804.3:c.575-35C>T	ENSP00000415483.2:n.575-35C>T
NM_012188.4:c.825C>T	NP_036320.2:p.Ala275=
NM_144769.2:c.575-35C>T	NP_658982.1:n.575-35C>T
NM_012188.5:c.825C>T MANE Select	NP_036320.2:p.Ala275=
NM_144769.3:c.575-35C>T	NP_658982.1:n.575-35C>T
NM_144769.4:c.575-35C>T	NP_658982.1:n.575-35C>T