Canonical Allele Identifier: CA1478578

Gene: FH

Linked Data

• dbSNP Id: rs367887305
• ExAC: 1:241667575 T / A
• MyVariant Identifiers: chr1:g.241667575T>A (hg19) ; chr1:g.241504275T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504275T>A , CM000663.2:g.241504275T>A	GRCh38
NC_000001.10:g.241667575T>A , CM000663.1:g.241667575T>A	GRCh37
NC_000001.9:g.239734198T>A	NCBI36
NG_012338.1:g.20480A>T , LRG_504:g.20480A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1408-30A>T
ENST00000682162.1:c.934-30A>T	ENSP00000508203.1:n.934-30A>T
ENST00000682567.1:n.982-30A>T
ENST00000683521.1:c.905-30A>T	ENSP00000506864.1:n.905-30A>T
ENST00000684161.1:n.2120-30A>T
ENST00000684483.1:c.*301-30A>T	ENSP00000507894.1:n.*301-30A>T
ENST00000366560.4:c.905-30A>T MANE Select	ENSP00000355518.4:n.905-30A>T
ENST00000366560.3:c.905-30A>T	ENSP00000355518.3:n.905-30A>T
NM_000143.3:c.905-30A>T , LRG_504t1:c.905-30A>T	NP_000134.2:n.905-30A>T
XM_011544132.1:c.677-30A>T	XP_011542434.1:n.677-30A>T
XM_011544132.2:c.677-30A>T	XP_011542434.1:n.677-30A>T
NM_000143.4:c.905-30A>T MANE Select	NP_000134.2:n.905-30A>T