Canonical Allele Identifier: CA362558270
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1174233249
gnomAD v2: 6-1610871-A-C
gnomAD v4: 6-1610636-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610636A>C , CM000668.2:g.1610636A>C GRCh38
NC_000006.11:g.1610871A>C , CM000668.1:g.1610871A>C GRCh37
NC_000006.10:g.1555870A>C NCBI36
NG_009368.1:g.5191A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.191A>C MANE Select ENSP00000493906.1:p.Tyr64Ser
ENST00000380874.3:c.191A>C ENSP00000370256.2:p.Tyr64Ser
NM_001453.2:c.191A>C NP_001444.2:p.Tyr64Ser
NM_001453.3:c.191A>C MANE Select NP_001444.2:p.Tyr64Ser