Canonical Allele Identifier: CA345439951

Gene: FH

Linked Data

• gnomAD v4: 1-241512017-G-A
• MyVariant Identifiers: chr1:g.241675317G>A (hg19) ; chr1:g.241512017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512017G>A , CM000663.2:g.241512017G>A	GRCh38
NC_000001.10:g.241675317G>A , CM000663.1:g.241675317G>A	GRCh37
NC_000001.9:g.239741940G>A	NCBI36
NG_012338.1:g.12738C>T , LRG_504:g.12738C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1008C>T
ENST00000682162.1:c.534C>T	ENSP00000508203.1:n.534C>T
ENST00000682567.1:n.582C>T
ENST00000683521.1:c.505C>T	ENSP00000506864.1:p.Leu169Phe
ENST00000684483.1:c.505C>T	ENSP00000507894.1:p.Leu169Phe
ENST00000366560.4:c.505C>T MANE Select	ENSP00000355518.4:p.Leu169Phe
ENST00000366560.3:c.505C>T	ENSP00000355518.3:p.Leu169Phe
ENST00000497042.1:n.201C>T
NM_000143.3:c.505C>T , LRG_504t1:c.505C>T	NP_000134.2:p.Leu169Phe
XM_011544132.1:c.277C>T	XP_011542434.1:p.Leu93Phe
XM_011544132.2:c.277C>T	XP_011542434.1:p.Leu93Phe
NM_000143.4:c.505C>T MANE Select	NP_000134.2:p.Leu169Phe