Canonical Allele Identifier: CA345438128

Gene: FH

Linked Data

• dbSNP Id: rs1060500896
• gnomAD v2: 1-241667398-G-A
• gnomAD v4: 1-241504098-G-A
• MyVariant Identifiers: chr1:g.241667398G>A (hg19) ; chr1:g.241504098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504098G>A , CM000663.2:g.241504098G>A	GRCh38
NC_000001.10:g.241667398G>A , CM000663.1:g.241667398G>A	GRCh37
NC_000001.9:g.239734021G>A	NCBI36
NG_012338.1:g.20657C>T , LRG_504:g.20657C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1555C>T
ENST00000682162.1:c.1081C>T	ENSP00000508203.1:n.1081C>T
ENST00000682567.1:n.1129C>T
ENST00000683521.1:c.1052C>T	ENSP00000506864.1:p.Ser351Leu
ENST00000684161.1:n.2267C>T
ENST00000684483.1:c.*448C>T	ENSP00000507894.1:n.*448C>T
ENST00000366560.4:c.1052C>T MANE Select	ENSP00000355518.4:p.Ser351Leu
ENST00000366560.3:c.1052C>T	ENSP00000355518.3:p.Ser351Leu
NM_000143.3:c.1052C>T , LRG_504t1:c.1052C>T	NP_000134.2:p.Ser351Leu
XM_011544132.1:c.824C>T	XP_011542434.1:p.Ser275Leu
XM_011544132.2:c.824C>T	XP_011542434.1:p.Ser275Leu
NM_000143.4:c.1052C>T MANE Select	NP_000134.2:p.Ser351Leu