Canonical Allele Identifier: CA1085285065
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1762582941
gnomAD v3: 6-1612958-C-T
gnomAD v4: 6-1612958-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612958C>T , CM000668.2:g.1612958C>T GRCh38
NC_000006.11:g.1613193C>T , CM000668.1:g.1613193C>T GRCh37
NC_000006.10:g.1558192C>T NCBI36
NG_009368.1:g.7513C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*851C>T MANE Select ENSP00000493906.1:n.*851C>T
ENST00000380874.3:c.*851C>T ENSP00000370256.2:n.*851C>T
NM_001453.2:c.2513C>T NP_001444.2:n.2513C>T
NM_001453.3:c.*851C>T MANE Select NP_001444.2:n.*851C>T