Canonical Allele Identifier: CA2574470508

Gene: FH

Linked Data

• gnomAD v4: 1-241511949-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511949C>A , CM000663.2:g.241511949C>A	GRCh38
NC_000001.10:g.241675249C>A , CM000663.1:g.241675249C>A	GRCh37
NC_000001.9:g.239741872C>A	NCBI36
NG_012338.1:g.12806G>T , LRG_504:g.12806G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+18G>T
ENST00000682162.1:c.584+18G>T	ENSP00000508203.1:n.584+18G>T
ENST00000682567.1:n.632+18G>T
ENST00000683521.1:c.555+18G>T	ENSP00000506864.1:n.555+18G>T
ENST00000684483.1:c.555+18G>T	ENSP00000507894.1:n.555+18G>T
ENST00000366560.4:c.555+18G>T MANE Select	ENSP00000355518.4:n.555+18G>T
ENST00000366560.3:c.555+18G>T	ENSP00000355518.3:n.555+18G>T
ENST00000497042.1:n.269G>T
NM_000143.3:c.555+18G>T , LRG_504t1:c.555+18G>T	NP_000134.2:n.555+18G>T
XM_011544132.1:c.327+18G>T	XP_011542434.1:n.327+18G>T
XM_011544132.2:c.327+18G>T	XP_011542434.1:n.327+18G>T
NM_000143.4:c.555+18G>T MANE Select	NP_000134.2:n.555+18G>T