Canonical Allele Identifier: CA345437368

Gene: FH

Linked Data

• COSMIC: COSM906403
• MyVariant Identifiers: chr1:g.241665783C>A (hg19) ; chr1:g.241502483C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502483C>A , CM000663.2:g.241502483C>A	GRCh38
NC_000001.10:g.241665783C>A , CM000663.1:g.241665783C>A	GRCh37
NC_000001.9:g.239732406C>A	NCBI36
NG_012338.1:g.22272G>T , LRG_504:g.22272G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1699G>T
ENST00000682162.1:c.1225G>T	ENSP00000508203.1:n.1225G>T
ENST00000682567.1:n.2744G>T
ENST00000683521.1:c.1196G>T	ENSP00000506864.1:p.Ser399Ile
ENST00000684161.1:n.2411G>T
ENST00000684483.1:c.*592G>T	ENSP00000507894.1:n.*592G>T
ENST00000366560.4:c.1196G>T MANE Select	ENSP00000355518.4:p.Ser399Ile
ENST00000366560.3:c.1196G>T	ENSP00000355518.3:p.Ser399Ile
NM_000143.3:c.1196G>T , LRG_504t1:c.1196G>T	NP_000134.2:p.Ser399Ile
XM_011544132.1:c.968G>T	XP_011542434.1:p.Ser323Ile
XM_011544132.2:c.968G>T	XP_011542434.1:p.Ser323Ile
NM_000143.4:c.1196G>T MANE Select	NP_000134.2:p.Ser399Ile