Canonical Allele Identifier: CA3614750
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs104893958
gnomAD v2: 6-1611058-C-T
gnomAD v3: 6-1610823-C-T
gnomAD v4: 6-1610823-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610823C>T , CM000668.2:g.1610823C>T GRCh38
NC_000006.11:g.1611058C>T , CM000668.1:g.1611058C>T GRCh37
NC_000006.10:g.1556057C>T NCBI36
NG_009368.1:g.5378C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.378C>T MANE Select ENSP00000493906.1:p.Ile126=
ENST00000380874.3:c.378C>T ENSP00000370256.2:p.Ile126=
NM_001453.2:c.378C>T NP_001444.2:p.Ile126=
NM_001453.3:c.378C>T MANE Select NP_001444.2:p.Ile126=