Canonical Allele Identifier: CA345436306

Gene: FH

Linked Data

• gnomAD v4: 1-241500446-G-A
• MyVariant Identifiers: chr1:g.241663746G>A (hg19) ; chr1:g.241500446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500446G>A , CM000663.2:g.241500446G>A	GRCh38
NC_000001.10:g.241663746G>A , CM000663.1:g.241663746G>A	GRCh37
NC_000001.9:g.239730369G>A	NCBI36
NG_012338.1:g.24309C>T , LRG_504:g.24309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1884C>T
ENST00000682162.1:c.1410C>T	ENSP00000508203.1:n.1410C>T
ENST00000682567.1:n.4781C>T
ENST00000683521.1:c.1381C>T	ENSP00000506864.1:p.Pro461Ser
ENST00000684161.1:n.2596C>T
ENST00000684483.1:c.*777C>T	ENSP00000507894.1:n.*777C>T
ENST00000366560.4:c.1381C>T MANE Select	ENSP00000355518.4:p.Pro461Ser
ENST00000366560.3:c.1381C>T	ENSP00000355518.3:p.Pro461Ser
NM_000143.3:c.1381C>T , LRG_504t1:c.1381C>T	NP_000134.2:p.Pro461Ser
XM_011544132.1:c.1153C>T	XP_011542434.1:p.Pro385Ser
XM_011544132.2:c.1153C>T	XP_011542434.1:p.Pro385Ser
NM_000143.4:c.1381C>T MANE Select	NP_000134.2:p.Pro461Ser