Canonical Allele Identifier: CA345439263

Gene: FH

Linked Data

• ClinVar Variation Id: 1692243
• ClinVar RCV Id: RCV002255864
• dbSNP Id: rs2147919498
• gnomAD v4: 1-241508665-C-T
• MyVariant Identifiers: chr1:g.241671965C>T (hg19) ; chr1:g.241508665C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508665C>T , CM000663.2:g.241508665C>T	GRCh38
NC_000001.10:g.241671965C>T , CM000663.1:g.241671965C>T	GRCh37
NC_000001.9:g.239738588C>T	NCBI36
NG_012338.1:g.16090G>A , LRG_504:g.16090G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1179G>A
ENST00000682162.1:c.705G>A	ENSP00000508203.1:n.705G>A
ENST00000682567.1:n.753G>A
ENST00000683521.1:c.676G>A	ENSP00000506864.1:p.Ala226Thr
ENST00000684161.1:n.1891G>A
ENST00000684483.1:c.*72G>A	ENSP00000507894.1:n.*72G>A
ENST00000366560.4:c.676G>A MANE Select	ENSP00000355518.4:p.Ala226Thr
ENST00000366560.3:c.676G>A	ENSP00000355518.3:p.Ala226Thr
NM_000143.3:c.676G>A , LRG_504t1:c.676G>A	NP_000134.2:p.Ala226Thr
XM_011544132.1:c.448G>A	XP_011542434.1:p.Ala150Thr
XM_011544132.2:c.448G>A	XP_011542434.1:p.Ala150Thr
NM_000143.4:c.676G>A MANE Select	NP_000134.2:p.Ala226Thr