Canonical Allele Identifier: CA424076129

Gene: FH

Linked Data

• ClinVar Variation Id: 1643100
• ClinVar RCV Id: RCV003061805
• dbSNP Id: rs2147919618
• gnomAD v4: 1-241508723-T-G
• MyVariant Identifiers: chr1:g.241672023T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508723T>G , CM000663.2:g.241508723T>G	GRCh38
NC_000001.10:g.241672023T>G , CM000663.1:g.241672023T>G	GRCh37
NC_000001.9:g.239738646T>G	NCBI36
NG_012338.1:g.16032A>C , LRG_504:g.16032A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1121A>C
ENST00000682162.1:c.647A>C	ENSP00000508203.1:n.647A>C
ENST00000682567.1:n.695A>C
ENST00000683521.1:c.618A>C	ENSP00000506864.1:p.Val206=
ENST00000684161.1:n.1833A>C
ENST00000684483.1:c.*14A>C	ENSP00000507894.1:n.*14A>C
ENST00000366560.4:c.618A>C MANE Select	ENSP00000355518.4:p.Val206=
ENST00000366560.3:c.618A>C	ENSP00000355518.3:p.Val206=
NM_000143.3:c.618A>C , LRG_504t1:c.618A>C	NP_000134.2:p.Val206=
XM_011544132.1:c.390A>C	XP_011542434.1:p.Val130=
XM_011544132.2:c.390A>C	XP_011542434.1:p.Val130=
NM_000143.4:c.618A>C MANE Select	NP_000134.2:p.Val206=