Canonical Allele Identifier: CA3555007

Gene: FOXI1

Linked Data

• ClinVar Variation Id: 352703
• ClinVar RCV Id: RCV000367498 ; RCV000442615 ; RCV003912503
• dbSNP Id: rs370450076
• ExAC: 5:169533269 G / C
• gnomAD v2: 5-169533269-G-C
• gnomAD v3: 5-170106265-G-C
• gnomAD v4: 5-170106265-G-C
• COSMIC: COSM1739162
• MyVariant Identifiers: chr5:g.169533269G>C (hg19) ; chr5:g.170106265G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.170106265G>C , CM000667.2:g.170106265G>C	GRCh38
NC_000005.9:g.169533269G>C , CM000667.1:g.169533269G>C	GRCh37
NC_000005.8:g.169465847G>C	NCBI36
NG_012068.1:g.5353G>C
NG_012068.2:g.5353G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306268.8:c.308G>C MANE Select	ENSP00000304286.5:p.Gly103Ala
ENST00000449804.4:c.308G>C	ENSP00000415483.2:p.Gly103Ala
ENST00000306268.6:c.308G>C	ENSP00000304286.5:p.Gly103Ala
ENST00000449804.3:c.308G>C	ENSP00000415483.2:p.Gly103Ala
NM_012188.4:c.308G>C	NP_036320.2:p.Gly103Ala
NM_144769.2:c.308G>C	NP_658982.1:p.Gly103Ala
XR_941092.1:n.369G>C
NM_012188.5:c.308G>C MANE Select	NP_036320.2:p.Gly103Ala
NM_144769.3:c.308G>C	NP_658982.1:p.Gly103Ala
NM_144769.4:c.308G>C	NP_658982.1:p.Gly103Ala