Canonical Allele Identifier: CA345439145

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241671904T>G (hg19) ; chr1:g.241508604T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508604T>G , CM000663.2:g.241508604T>G	GRCh38
NC_000001.10:g.241671904T>G , CM000663.1:g.241671904T>G	GRCh37
NC_000001.9:g.239738527T>G	NCBI36
NG_012338.1:g.16151A>C , LRG_504:g.16151A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1240A>C
ENST00000682162.1:c.766A>C	ENSP00000508203.1:n.766A>C
ENST00000682567.1:n.814A>C
ENST00000683521.1:c.737A>C	ENSP00000506864.1:p.Gln246Pro
ENST00000684161.1:n.1952A>C
ENST00000684483.1:c.*133A>C	ENSP00000507894.1:n.*133A>C
ENST00000366560.4:c.737A>C MANE Select	ENSP00000355518.4:p.Gln246Pro
ENST00000366560.3:c.737A>C	ENSP00000355518.3:p.Gln246Pro
NM_000143.3:c.737A>C , LRG_504t1:c.737A>C	NP_000134.2:p.Gln246Pro
XM_011544132.1:c.509A>C	XP_011542434.1:p.Gln170Pro
XM_011544132.2:c.509A>C	XP_011542434.1:p.Gln170Pro
NM_000143.4:c.737A>C MANE Select	NP_000134.2:p.Gln246Pro