Canonical Allele Identifier: CA345439351

Gene: FH

Linked Data

• ClinVar Variation Id: 460367
• ClinVar RCV Id: RCV001783040 ; RCV004023831
• dbSNP Id: rs1553341353
• MyVariant Identifiers: chr1:g.241672007G>A (hg19) ; chr1:g.241508707G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508707G>A , CM000663.2:g.241508707G>A	GRCh38
NC_000001.10:g.241672007G>A , CM000663.1:g.241672007G>A	GRCh37
NC_000001.9:g.239738630G>A	NCBI36
NG_012338.1:g.16048C>T , LRG_504:g.16048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1137C>T
ENST00000682162.1:c.663C>T	ENSP00000508203.1:n.663C>T
ENST00000682567.1:n.711C>T
ENST00000683521.1:c.634C>T	ENSP00000506864.1:p.Gln212Ter
ENST00000684161.1:n.1849C>T
ENST00000684483.1:c.*30C>T	ENSP00000507894.1:n.*30C>T
ENST00000366560.4:c.634C>T MANE Select	ENSP00000355518.4:p.Gln212Ter
ENST00000366560.3:c.634C>T	ENSP00000355518.3:p.Gln212Ter
NM_000143.3:c.634C>T , LRG_504t1:c.634C>T	NP_000134.2:p.Gln212Ter
XM_011544132.1:c.406C>T	XP_011542434.1:p.Gln136Ter
XM_011544132.2:c.406C>T	XP_011542434.1:p.Gln136Ter
NM_000143.4:c.634C>T MANE Select	NP_000134.2:p.Gln212Ter