Canonical Allele Identifier: CA362559438

Gene: FOXC1

Linked Data

• gnomAD v4: 6-1611169-C-G
• MyVariant Identifiers: chr6:g.1611404C>G (hg19) ; chr6:g.1611169C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1611169C>G , CM000668.2:g.1611169C>G	GRCh38
NC_000006.11:g.1611404C>G , CM000668.1:g.1611404C>G	GRCh37
NC_000006.10:g.1556403C>G	NCBI36
NG_009368.1:g.5724C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645831.2:c.724C>G MANE Select	ENSP00000493906.1:p.Pro242Ala
ENST00000380874.3:c.724C>G	ENSP00000370256.2:p.Pro242Ala
NM_001453.2:c.724C>G	NP_001444.2:p.Pro242Ala
NM_001453.3:c.724C>G MANE Select	NP_001444.2:p.Pro242Ala