Canonical Allele Identifier: CA324080

Gene: FH

Linked Data

• ClinVar Variation Id: 214371
• ClinVar RCV Id: RCV000199536 ; RCV000261877 ; RCV000368306 ; RCV001529842
• dbSNP Id: rs200942733
• ExAC: 1:241683033 G / A
• gnomAD v2: 1-241683033-G-A
• gnomAD v3: 1-241519733-G-A
• gnomAD v4: 1-241519733-G-A
• MyVariant Identifiers: chr1:g.241683033G>A (hg19) ; chr1:g.241519733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519733G>A , CM000663.2:g.241519733G>A	GRCh38
NC_000001.10:g.241683033G>A , CM000663.1:g.241683033G>A	GRCh37
NC_000001.9:g.239749656G>A	NCBI36
NG_012338.1:g.5022C>T , LRG_504:g.5022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682567.1:n.67C>T
ENST00000683521.1:c.-11C>T	ENSP00000506864.1:n.-11C>T
ENST00000684483.1:c.-11C>T	ENSP00000507894.1:n.-11C>T
ENST00000366560.4:c.-11C>T MANE Select	ENSP00000355518.4:n.-11C>T
ENST00000366560.3:c.-11C>T	ENSP00000355518.3:n.-11C>T
NM_000143.3:c.-11C>T , LRG_504t1:c.-11C>T	NP_000134.2:n.-11C>T
NM_000143.4:c.-11C>T MANE Select	NP_000134.2:n.-11C>T