Canonical Allele Identifier: CA2651255344

Gene: FH

Linked Data

• gnomAD v4: 1-241512254-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512254T>G , CM000663.2:g.241512254T>G	GRCh38
NC_000001.10:g.241675554T>G , CM000663.1:g.241675554T>G	GRCh37
NC_000001.9:g.239742177T>G	NCBI36
NG_012338.1:g.12501A>C , LRG_504:g.12501A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.882-111A>C
ENST00000682162.1:c.408-111A>C	ENSP00000508203.1:n.408-111A>C
ENST00000682567.1:n.456-111A>C
ENST00000683521.1:c.379-111A>C	ENSP00000506864.1:n.379-111A>C
ENST00000684483.1:c.379-111A>C	ENSP00000507894.1:n.379-111A>C
ENST00000366560.4:c.379-111A>C MANE Select	ENSP00000355518.4:n.379-111A>C
ENST00000366560.3:c.379-111A>C	ENSP00000355518.3:n.379-111A>C
ENST00000497042.1:n.75-111A>C
NM_000143.3:c.379-111A>C , LRG_504t1:c.379-111A>C	NP_000134.2:n.379-111A>C
XM_011544132.1:c.151-111A>C	XP_011542434.1:n.151-111A>C
XM_011544132.2:c.151-111A>C	XP_011542434.1:n.151-111A>C
NM_000143.4:c.379-111A>C MANE Select	NP_000134.2:n.379-111A>C