Canonical Allele Identifier: CA325227

Gene: FH

Linked Data

• ClinVar Variation Id: 214377
• ClinVar RCV Id: RCV000200636 ; RCV000467363 ; RCV000572182 ; RCV003387797
• dbSNP Id: rs772190176
• ExAC: 1:241669390 C / T
• gnomAD v3: 1-241506090-C-T
• gnomAD v4: 1-241506090-C-T
• MyVariant Identifiers: chr1:g.241669390C>T (hg19) ; chr1:g.241506090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241506090C>T , CM000663.2:g.241506090C>T	GRCh38
NC_000001.10:g.241669390C>T , CM000663.1:g.241669390C>T	GRCh37
NC_000001.9:g.239736013C>T	NCBI36
NG_012338.1:g.18665G>A , LRG_504:g.18665G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1320G>A
ENST00000682162.1:c.846G>A	ENSP00000508203.1:n.846G>A
ENST00000682567.1:n.894G>A
ENST00000683521.1:c.817G>A	ENSP00000506864.1:p.Ala273Thr
ENST00000684161.1:n.2032G>A
ENST00000684483.1:c.*213G>A	ENSP00000507894.1:n.*213G>A
ENST00000366560.4:c.817G>A MANE Select	ENSP00000355518.4:p.Ala273Thr
ENST00000366560.3:c.817G>A	ENSP00000355518.3:p.Ala273Thr
NM_000143.3:c.817G>A , LRG_504t1:c.817G>A	NP_000134.2:p.Ala273Thr
XM_011544132.1:c.589G>A	XP_011542434.1:p.Ala197Thr
XM_011544132.2:c.589G>A	XP_011542434.1:p.Ala197Thr
NM_000143.4:c.817G>A MANE Select	NP_000134.2:p.Ala273Thr