Canonical Allele Identifier: CA345439355

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241672009A>G (hg19) ; chr1:g.241508709A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508709A>G , CM000663.2:g.241508709A>G	GRCh38
NC_000001.10:g.241672009A>G , CM000663.1:g.241672009A>G	GRCh37
NC_000001.9:g.239738632A>G	NCBI36
NG_012338.1:g.16046T>C , LRG_504:g.16046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1135T>C
ENST00000682162.1:c.661T>C	ENSP00000508203.1:n.661T>C
ENST00000682567.1:n.709T>C
ENST00000683521.1:c.632T>C	ENSP00000506864.1:p.Leu211Pro
ENST00000684161.1:n.1847T>C
ENST00000684483.1:c.*28T>C	ENSP00000507894.1:n.*28T>C
ENST00000366560.4:c.632T>C MANE Select	ENSP00000355518.4:p.Leu211Pro
ENST00000366560.3:c.632T>C	ENSP00000355518.3:p.Leu211Pro
NM_000143.3:c.632T>C , LRG_504t1:c.632T>C	NP_000134.2:p.Leu211Pro
XM_011544132.1:c.404T>C	XP_011542434.1:p.Leu135Pro
XM_011544132.2:c.404T>C	XP_011542434.1:p.Leu135Pro
NM_000143.4:c.632T>C MANE Select	NP_000134.2:p.Leu211Pro