Canonical Allele Identifier: CA3555007
Gene: FOXI1 HGNC NCBI

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)
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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
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