Canonical Allele Identifier: CA565018202
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs199722397
gnomAD v2: 6-1610265-G-T
gnomAD v3: 6-1610030-G-T
gnomAD v4: 6-1610030-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610030G>T , CM000668.2:g.1610030G>T GRCh38
NC_000006.11:g.1610265G>T , CM000668.1:g.1610265G>T GRCh37
NC_000006.10:g.1555264G>T NCBI36
NG_009368.1:g.4585G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-416G>T MANE Select ENSP00000493906.1:n.-416G>T
ENST00000380874.3:c.-416G>T ENSP00000370256.2:n.-416G>T
NM_001453.3:c.-416G>T MANE Select NP_001444.2:n.-416G>T