Canonical Allele Identifier: CA40332088

Gene: FH

Linked Data

• dbSNP Id: rs1016298854
• gnomAD v3: 1-241512246-G-A
• gnomAD v4: 1-241512246-G-A
• MyVariant Identifiers: chr1:g.241675546G>A (hg19) ; chr1:g.241512246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512246G>A , CM000663.2:g.241512246G>A	GRCh38
NC_000001.10:g.241675546G>A , CM000663.1:g.241675546G>A	GRCh37
NC_000001.9:g.239742169G>A	NCBI36
NG_012338.1:g.12509C>T , LRG_504:g.12509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.882-103C>T
ENST00000682162.1:c.408-103C>T	ENSP00000508203.1:n.408-103C>T
ENST00000682567.1:n.456-103C>T
ENST00000683521.1:c.379-103C>T	ENSP00000506864.1:n.379-103C>T
ENST00000684483.1:c.379-103C>T	ENSP00000507894.1:n.379-103C>T
ENST00000366560.4:c.379-103C>T MANE Select	ENSP00000355518.4:n.379-103C>T
ENST00000366560.3:c.379-103C>T	ENSP00000355518.3:n.379-103C>T
ENST00000497042.1:n.75-103C>T
NM_000143.3:c.379-103C>T , LRG_504t1:c.379-103C>T	NP_000134.2:n.379-103C>T
XM_011544132.1:c.151-103C>T	XP_011542434.1:n.151-103C>T
XM_011544132.2:c.151-103C>T	XP_011542434.1:n.151-103C>T
NM_000143.4:c.379-103C>T MANE Select	NP_000134.2:n.379-103C>T