Canonical Allele Identifier: CA362558592
Gene: FOXC1 HGNC NCBI

Linked Data

gnomAD v4: 6-1610782-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610782C>T , CM000668.2:g.1610782C>T GRCh38
NC_000006.11:g.1611017C>T , CM000668.1:g.1611017C>T GRCh37
NC_000006.10:g.1556016C>T NCBI36
NG_009368.1:g.5337C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.337C>T MANE Select ENSP00000493906.1:p.Pro113Ser
ENST00000380874.3:c.337C>T ENSP00000370256.2:p.Pro113Ser
NM_001453.2:c.337C>T NP_001444.2:p.Pro113Ser
NM_001453.3:c.337C>T MANE Select NP_001444.2:p.Pro113Ser