Canonical Allele Identifier: CA3614729
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs767147260
ExAC: 6:1610956 G / T
gnomAD v2: 6-1610956-G-T
gnomAD v4: 6-1610721-G-T
MyVariant Identifiers: chr6:g.1610956G>T (hg19) chr6:g.1610721G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610721G>T , CM000668.2:g.1610721G>T GRCh38
NC_000006.11:g.1610956G>T , CM000668.1:g.1610956G>T GRCh37
NC_000006.10:g.1555955G>T NCBI36
NG_009368.1:g.5276G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.276G>T MANE Select ENSP00000493906.1:p.Gln92His
ENST00000380874.3:c.276G>T ENSP00000370256.2:p.Gln92His
NM_001453.2:c.276G>T NP_001444.2:p.Gln92His
NM_001453.3:c.276G>T MANE Select NP_001444.2:p.Gln92His
Search 100 bp 5'
Search 100 bp 3'