Canonical Allele Identifier: CA133392856
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1027738401
gnomAD v3: 6-1613165-C-T
gnomAD v4: 6-1613165-C-T
MyVariant Identifiers: chr6:g.1613400C>T (hg19) chr6:g.1613165C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1613165C>T , CM000668.2:g.1613165C>T GRCh38
NC_000006.11:g.1613400C>T , CM000668.1:g.1613400C>T GRCh37
NC_000006.10:g.1558399C>T NCBI36
NG_009368.1:g.7720C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*1058C>T MANE Select ENSP00000493906.1:n.*1058C>T
ENST00000380874.3:c.*1058C>T ENSP00000370256.2:n.*1058C>T
NM_001453.2:c.2720C>T NP_001444.2:n.2720C>T
NM_001453.3:c.*1058C>T MANE Select NP_001444.2:n.*1058C>T
Search 100 bp 5'
Search 100 bp 3'