Canonical Allele Identifier: CA119634
Gene: FOXC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.1610823C>G
GRCh37 chr6:g.1611058C>G
Revel Score:
ENST00000541209 0.917
ENST00000380874 0.917
ClinVar RCV:
RCV000008969
ClinVar Variation:
8453
dbSNP:
104893958
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.378C>G MANE Select ENSP00000493906.1:p.Ile126Met
ENST00000380874.3:c.378C>G ENSP00000370256.2:p.Ile126Met
NM_001453.2:c.378C>G NP_001444.2:p.Ile126Met
NM_001453.3:c.378C>G MANE Select NP_001444.2:p.Ile126Met
Search 100 bp 5'
Search 100 bp 3'