Canonical Allele Identifier: CA40332121

Gene: FH

Linked Data

• dbSNP Id: rs529367708
• gnomAD v3: 1-241512324-C-T
• gnomAD v4: 1-241512324-C-T
• MyVariant Identifiers: chr1:g.241675624C>T (hg19) ; chr1:g.241512324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512324C>T , CM000663.2:g.241512324C>T	GRCh38
NC_000001.10:g.241675624C>T , CM000663.1:g.241675624C>T	GRCh37
NC_000001.9:g.239742247C>T	NCBI36
NG_012338.1:g.12431G>A , LRG_504:g.12431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.882-181G>A
ENST00000682162.1:c.408-181G>A	ENSP00000508203.1:n.408-181G>A
ENST00000682567.1:n.456-181G>A
ENST00000683521.1:c.379-181G>A	ENSP00000506864.1:n.379-181G>A
ENST00000684483.1:c.379-181G>A	ENSP00000507894.1:n.379-181G>A
ENST00000366560.4:c.379-181G>A MANE Select	ENSP00000355518.4:n.379-181G>A
ENST00000366560.3:c.379-181G>A	ENSP00000355518.3:n.379-181G>A
ENST00000497042.1:n.75-181G>A
NM_000143.3:c.379-181G>A , LRG_504t1:c.379-181G>A	NP_000134.2:n.379-181G>A
XM_011544132.1:c.151-181G>A	XP_011542434.1:n.151-181G>A
XM_011544132.2:c.151-181G>A	XP_011542434.1:n.151-181G>A
NM_000143.4:c.379-181G>A MANE Select	NP_000134.2:n.379-181G>A