Canonical Allele Identifier: CA821650279
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1306477997
gnomAD v3: 6-1613155-G-A
gnomAD v4: 6-1613155-G-A
MyVariant Identifiers: chr6:g.1613390G>A (hg19) chr6:g.1613155G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1613155G>A , CM000668.2:g.1613155G>A GRCh38
NC_000006.11:g.1613390G>A , CM000668.1:g.1613390G>A GRCh37
NC_000006.10:g.1558389G>A NCBI36
NG_009368.1:g.7710G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*1048G>A MANE Select ENSP00000493906.1:n.*1048G>A
ENST00000380874.3:c.*1048G>A ENSP00000370256.2:n.*1048G>A
NM_001453.2:c.2710G>A NP_001444.2:n.2710G>A
NM_001453.3:c.*1048G>A MANE Select NP_001444.2:n.*1048G>A
Search 100 bp 5'
Search 100 bp 3'