Canonical Allele Identifier: CA10610740

Gene: FH

Linked Data

• ClinVar Variation Id: 296859
• ClinVar RCV Id: RCV000297371 ; RCV000355546
• dbSNP Id: rs200093224
• gnomAD v3: 1-241497726-A-G
• gnomAD v4: 1-241497726-A-G
• MyVariant Identifiers: chr1:g.241661026A>G (hg19) ; chr1:g.241497726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241497726A>G , CM000663.2:g.241497726A>G	GRCh38
NC_000001.10:g.241661026A>G , CM000663.1:g.241661026A>G	GRCh37
NC_000001.9:g.239727649A>G	NCBI36
NG_012338.1:g.27029T>C , LRG_504:g.27029T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.2138T>C
ENST00000682162.1:c.1664T>C	ENSP00000508203.1:n.1664T>C
ENST00000682567.1:n.5035T>C
ENST00000684161.1:n.2850T>C
ENST00000684483.1:c.*1031T>C	ENSP00000507894.1:n.*1031T>C
ENST00000366560.4:c.*102T>C MANE Select	ENSP00000355518.4:n.*102T>C
ENST00000366560.3:c.*102T>C	ENSP00000355518.3:n.*102T>C
NM_000143.3:c.*102T>C , LRG_504t1:c.*102T>C	NP_000134.2:n.*102T>C
XM_011544132.1:c.*102T>C	XP_011542434.1:n.*102T>C
XM_011544132.2:c.*102T>C	XP_011542434.1:n.*102T>C
NM_000143.4:c.*102T>C MANE Select	NP_000134.2:n.*102T>C