Canonical Allele Identifier: CA424076273

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241675303T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512003T>G , CM000663.2:g.241512003T>G	GRCh38
NC_000001.10:g.241675303T>G , CM000663.1:g.241675303T>G	GRCh37
NC_000001.9:g.239741926T>G	NCBI36
NG_012338.1:g.12752A>C , LRG_504:g.12752A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1022A>C
ENST00000682162.1:c.548A>C	ENSP00000508203.1:n.548A>C
ENST00000682567.1:n.596A>C
ENST00000683521.1:c.519A>C	ENSP00000506864.1:p.Ile173=
ENST00000684483.1:c.519A>C	ENSP00000507894.1:p.Ile173=
ENST00000366560.4:c.519A>C MANE Select	ENSP00000355518.4:p.Ile173=
ENST00000366560.3:c.519A>C	ENSP00000355518.3:p.Ile173=
ENST00000497042.1:n.215A>C
NM_000143.3:c.519A>C , LRG_504t1:c.519A>C	NP_000134.2:p.Ile173=
XM_011544132.1:c.291A>C	XP_011542434.1:p.Ile97=
XM_011544132.2:c.291A>C	XP_011542434.1:p.Ile97=
NM_000143.4:c.519A>C MANE Select	NP_000134.2:p.Ile173=