Canonical Allele Identifier: CA424075457

Gene: FH

Linked Data

• ClinVar Variation Id: 1771285
• ClinVar RCV Id: RCV002381163
• MyVariant Identifiers: chr1:g.241663747A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500447A>G , CM000663.2:g.241500447A>G	GRCh38
NC_000001.10:g.241663747A>G , CM000663.1:g.241663747A>G	GRCh37
NC_000001.9:g.239730370A>G	NCBI36
NG_012338.1:g.24308T>C , LRG_504:g.24308T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1883T>C
ENST00000682162.1:c.1409T>C	ENSP00000508203.1:n.1409T>C
ENST00000682567.1:n.4780T>C
ENST00000683521.1:c.1380T>C	ENSP00000506864.1:p.Asn460=
ENST00000684161.1:n.2595T>C
ENST00000684483.1:c.*776T>C	ENSP00000507894.1:n.*776T>C
ENST00000366560.4:c.1380T>C MANE Select	ENSP00000355518.4:p.Asn460=
ENST00000366560.3:c.1380T>C	ENSP00000355518.3:p.Asn460=
NM_000143.3:c.1380T>C , LRG_504t1:c.1380T>C	NP_000134.2:p.Asn460=
XM_011544132.1:c.1152T>C	XP_011542434.1:p.Asn384=
XM_011544132.2:c.1152T>C	XP_011542434.1:p.Asn384=
NM_000143.4:c.1380T>C MANE Select	NP_000134.2:p.Asn460=