Canonical Allele Identifier: CA345440096

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241675379T>C (hg19) ; chr1:g.241512079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512079T>C , CM000663.2:g.241512079T>C	GRCh38
NC_000001.10:g.241675379T>C , CM000663.1:g.241675379T>C	GRCh37
NC_000001.9:g.239742002T>C	NCBI36
NG_012338.1:g.12676A>G , LRG_504:g.12676A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.946A>G
ENST00000682162.1:c.472A>G	ENSP00000508203.1:n.472A>G
ENST00000682567.1:n.520A>G
ENST00000683521.1:c.443A>G	ENSP00000506864.1:p.Gln148Arg
ENST00000684483.1:c.443A>G	ENSP00000507894.1:p.Gln148Arg
ENST00000366560.4:c.443A>G MANE Select	ENSP00000355518.4:p.Gln148Arg
ENST00000366560.3:c.443A>G	ENSP00000355518.3:p.Gln148Arg
ENST00000497042.1:n.139A>G
NM_000143.3:c.443A>G , LRG_504t1:c.443A>G	NP_000134.2:p.Gln148Arg
XM_011544132.1:c.215A>G	XP_011542434.1:p.Gln72Arg
XM_011544132.2:c.215A>G	XP_011542434.1:p.Gln72Arg
NM_000143.4:c.443A>G MANE Select	NP_000134.2:p.Gln148Arg