Canonical Allele Identifier: CA345439496

Gene: FH

Linked Data

• ClinVar Variation Id: 1066054
• ClinVar RCV Id: RCV002550960
• dbSNP Id: rs2147919711
• MyVariant Identifiers: chr1:g.241672078T>A (hg19) ; chr1:g.241508778T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508778T>A , CM000663.2:g.241508778T>A	GRCh38
NC_000001.10:g.241672078T>A , CM000663.1:g.241672078T>A	GRCh37
NC_000001.9:g.239738701T>A	NCBI36
NG_012338.1:g.15977A>T , LRG_504:g.15977A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1066A>T
ENST00000682162.1:c.592A>T	ENSP00000508203.1:n.592A>T
ENST00000682567.1:n.640A>T
ENST00000683521.1:c.563A>T	ENSP00000506864.1:p.Asn188Ile
ENST00000684161.1:n.1778A>T
ENST00000684483.1:c.556-18A>T	ENSP00000507894.1:n.556-18A>T
ENST00000366560.4:c.563A>T MANE Select	ENSP00000355518.4:p.Asn188Ile
ENST00000366560.3:c.563A>T	ENSP00000355518.3:p.Asn188Ile
NM_000143.3:c.563A>T , LRG_504t1:c.563A>T	NP_000134.2:p.Asn188Ile
XM_011544132.1:c.335A>T	XP_011542434.1:p.Asn112Ile
XM_011544132.2:c.335A>T	XP_011542434.1:p.Asn112Ile
NM_000143.4:c.563A>T MANE Select	NP_000134.2:p.Asn188Ile