Canonical Allele Identifier: CA3614700
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs775495187
gnomAD v2: 6-1610804-G-T
gnomAD v4: 6-1610569-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610569G>T , CM000668.2:g.1610569G>T GRCh38
NC_000006.11:g.1610804G>T , CM000668.1:g.1610804G>T GRCh37
NC_000006.10:g.1555803G>T NCBI36
NG_009368.1:g.5124G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.124G>T MANE Select ENSP00000493906.1:p.Ala42Ser
ENST00000380874.3:c.124G>T ENSP00000370256.2:p.Ala42Ser
NM_001453.2:c.124G>T NP_001444.2:p.Ala42Ser
NM_001453.3:c.124G>T MANE Select NP_001444.2:p.Ala42Ser