Canonical Allele Identifier: CA1478664

Gene: FH

Linked Data

• dbSNP Id: rs760336894
• ExAC: 1:241675245 A / T
• gnomAD v2: 1-241675245-A-T
• gnomAD v3: 1-241511945-A-T
• gnomAD v4: 1-241511945-A-T
• MyVariant Identifiers: chr1:g.241675245A>T (hg19) ; chr1:g.241511945A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511945A>T , CM000663.2:g.241511945A>T	GRCh38
NC_000001.10:g.241675245A>T , CM000663.1:g.241675245A>T	GRCh37
NC_000001.9:g.239741868A>T	NCBI36
NG_012338.1:g.12810T>A , LRG_504:g.12810T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+22T>A
ENST00000682162.1:c.584+22T>A	ENSP00000508203.1:n.584+22T>A
ENST00000682567.1:n.632+22T>A
ENST00000683521.1:c.555+22T>A	ENSP00000506864.1:n.555+22T>A
ENST00000684483.1:c.555+22T>A	ENSP00000507894.1:n.555+22T>A
ENST00000366560.4:c.555+22T>A MANE Select	ENSP00000355518.4:n.555+22T>A
ENST00000366560.3:c.555+22T>A	ENSP00000355518.3:n.555+22T>A
ENST00000497042.1:n.273T>A
NM_000143.3:c.555+22T>A , LRG_504t1:c.555+22T>A	NP_000134.2:n.555+22T>A
XM_011544132.1:c.327+22T>A	XP_011542434.1:n.327+22T>A
XM_011544132.2:c.327+22T>A	XP_011542434.1:n.327+22T>A
NM_000143.4:c.555+22T>A MANE Select	NP_000134.2:n.555+22T>A