Canonical Allele Identifier: CA4945397
Gene: FOXH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 362278
ClinVar RCV Id: RCV000394977
dbSNP Id: rs140090667
ExAC: 8:145699786 C / G
gnomAD v2: 8-145699786-C-G
gnomAD v3: 8-144474403-C-G
gnomAD v4: 8-144474403-C-G
MyVariant Identifiers: chr8:g.145699786C>G (hg19) chr8:g.144474403C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144474403C>G , CM000670.2:g.144474403C>G GRCh38
NC_000008.10:g.145699786C>G , CM000670.1:g.145699786C>G GRCh37
NC_000008.9:g.145670594C>G NCBI36
NG_030003.1:g.6933G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000377317.5:c.933G>C MANE Select ENSP00000366534.4:p.Trp311Cys
ENST00000377317.4:c.933G>C ENSP00000366534.4:p.Trp311Cys
NM_003923.2:c.933G>C NP_003914.1:p.Trp311Cys
NM_003923.3:c.933G>C MANE Select NP_003914.1:p.Trp311Cys
Search 100 bp 5'
Search 100 bp 3'