Canonical Allele Identifier: CA133392638
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs907364869
gnomAD v3: 6-1612956-G-A
gnomAD v4: 6-1612956-G-A
MyVariant Identifiers: chr6:g.1613191G>A (hg19) chr6:g.1612956G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612956G>A , CM000668.2:g.1612956G>A GRCh38
NC_000006.11:g.1613191G>A , CM000668.1:g.1613191G>A GRCh37
NC_000006.10:g.1558190G>A NCBI36
NG_009368.1:g.7511G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*849G>A MANE Select ENSP00000493906.1:n.*849G>A
ENST00000380874.3:c.*849G>A ENSP00000370256.2:n.*849G>A
NM_001453.2:c.2511G>A NP_001444.2:n.2511G>A
NM_001453.3:c.*849G>A MANE Select NP_001444.2:n.*849G>A
Search 100 bp 5'
Search 100 bp 3'