Canonical Allele Identifier: CA345439326

Gene: FH

Linked Data

• ClinVar Variation Id: 855318
• ClinVar RCV Id: RCV002255615 ; RCV002553885
• dbSNP Id: rs770141324
• gnomAD v4: 1-241508697-T-A
• MyVariant Identifiers: chr1:g.241671997T>A (hg19) ; chr1:g.241508697T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508697T>A , CM000663.2:g.241508697T>A	GRCh38
NC_000001.10:g.241671997T>A , CM000663.1:g.241671997T>A	GRCh37
NC_000001.9:g.239738620T>A	NCBI36
NG_012338.1:g.16058A>T , LRG_504:g.16058A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1147A>T
ENST00000682162.1:c.673A>T	ENSP00000508203.1:n.673A>T
ENST00000682567.1:n.721A>T
ENST00000683521.1:c.644A>T	ENSP00000506864.1:p.His215Leu
ENST00000684161.1:n.1859A>T
ENST00000684483.1:c.*40A>T	ENSP00000507894.1:n.*40A>T
ENST00000366560.4:c.644A>T MANE Select	ENSP00000355518.4:p.His215Leu
ENST00000366560.3:c.644A>T	ENSP00000355518.3:p.His215Leu
NM_000143.3:c.644A>T , LRG_504t1:c.644A>T	NP_000134.2:p.His215Leu
XM_011544132.1:c.416A>T	XP_011542434.1:p.His139Leu
XM_011544132.2:c.416A>T	XP_011542434.1:p.His139Leu
NM_000143.4:c.644A>T MANE Select	NP_000134.2:p.His215Leu