Canonical Allele Identifier: CA40332100

Gene: FH

Linked Data

• dbSNP Id: rs543395435
• gnomAD v3: 1-241512267-G-A
• gnomAD v4: 1-241512267-G-A
• MyVariant Identifiers: chr1:g.241675567G>A (hg19) ; chr1:g.241512267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512267G>A , CM000663.2:g.241512267G>A	GRCh38
NC_000001.10:g.241675567G>A , CM000663.1:g.241675567G>A	GRCh37
NC_000001.9:g.239742190G>A	NCBI36
NG_012338.1:g.12488C>T , LRG_504:g.12488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.882-124C>T
ENST00000682162.1:c.408-124C>T	ENSP00000508203.1:n.408-124C>T
ENST00000682567.1:n.456-124C>T
ENST00000683521.1:c.379-124C>T	ENSP00000506864.1:n.379-124C>T
ENST00000684483.1:c.379-124C>T	ENSP00000507894.1:n.379-124C>T
ENST00000366560.4:c.379-124C>T MANE Select	ENSP00000355518.4:n.379-124C>T
ENST00000366560.3:c.379-124C>T	ENSP00000355518.3:n.379-124C>T
ENST00000497042.1:n.75-124C>T
NM_000143.3:c.379-124C>T , LRG_504t1:c.379-124C>T	NP_000134.2:n.379-124C>T
XM_011544132.1:c.151-124C>T	XP_011542434.1:n.151-124C>T
XM_011544132.2:c.151-124C>T	XP_011542434.1:n.151-124C>T
NM_000143.4:c.379-124C>T MANE Select	NP_000134.2:n.379-124C>T