Canonical Allele Identifier: CA3554924

Gene: FOXI1

Linked Data

• ClinVar Variation Id: 352700
• ClinVar RCV Id: RCV000282844 ; RCV002502359
• dbSNP Id: rs764490860
• ExAC: 5:169532944 G / A
• gnomAD v2: 5-169532944-G-A
• gnomAD v3: 5-170105940-G-A
• gnomAD v4: 5-170105940-G-A
• MyVariant Identifiers: chr5:g.169532944G>A (hg19) ; chr5:g.170105940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.170105940G>A , CM000667.2:g.170105940G>A	GRCh38
NC_000005.9:g.169532944G>A , CM000667.1:g.169532944G>A	GRCh37
NC_000005.8:g.169465522G>A	NCBI36
NG_012068.1:g.5028G>A
NG_012068.2:g.5028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306268.8:c.-18G>A MANE Select	ENSP00000304286.5:n.-18G>A
ENST00000449804.4:c.-18G>A	ENSP00000415483.2:n.-18G>A
ENST00000306268.6:c.-18G>A	ENSP00000304286.5:n.-18G>A
ENST00000449804.3:c.-18G>A	ENSP00000415483.2:n.-18G>A
NM_012188.4:c.-18G>A	NP_036320.2:n.-18G>A
NM_144769.2:c.-18G>A	NP_658982.1:n.-18G>A
XR_941092.1:n.44G>A
NM_012188.5:c.-18G>A MANE Select	NP_036320.2:n.-18G>A
NM_144769.3:c.-18G>A	NP_658982.1:n.-18G>A
NM_144769.4:c.-18G>A	NP_658982.1:n.-18G>A