LDH info

Canonical Allele Identifier: CA119636
Gene: FOXC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8454
ClinVar RCV Id: RCV000008971
dbSNP Id: rs104893951

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610780T>C , CM000668.2:g.1610780T>C GRCh38
NC_000006.11:g.1611015T>C , CM000668.1:g.1611015T>C GRCh37
NC_000006.10:g.1556014T>C NCBI36
NG_009368.1:g.5335T>C

Transcript Alleles

HGVS Amino-acid change
NM_001453.2:n.335T>C VV NP_001444.2:p.Phe112Ser
NM_001453.3:c.335T>C VV MANE Preferred NP_001444.2:p.Phe112Ser
ENST00000380874.3:c.335T>C ENSP00000370256.2:p.Phe112Ser