Canonical Allele Identifier: CA362558276
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1317651795
gnomAD v2: 6-1610874-G-A
gnomAD v3: 6-1610639-G-A
gnomAD v4: 6-1610639-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610639G>A , CM000668.2:g.1610639G>A GRCh38
NC_000006.11:g.1610874G>A , CM000668.1:g.1610874G>A GRCh37
NC_000006.10:g.1555873G>A NCBI36
NG_009368.1:g.5194G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.194G>A MANE Select ENSP00000493906.1:p.Gly65Glu
ENST00000380874.3:c.194G>A ENSP00000370256.2:p.Gly65Glu
NM_001453.2:c.194G>A NP_001444.2:p.Gly65Glu
NM_001453.3:c.194G>A MANE Select NP_001444.2:p.Gly65Glu