Canonical Allele Identifier: CA2651255289

Gene: FH

Linked Data

• gnomAD v4: 1-241511948-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511948G>A , CM000663.2:g.241511948G>A	GRCh38
NC_000001.10:g.241675248G>A , CM000663.1:g.241675248G>A	GRCh37
NC_000001.9:g.239741871G>A	NCBI36
NG_012338.1:g.12807C>T , LRG_504:g.12807C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1058+19C>T
ENST00000682162.1:c.584+19C>T	ENSP00000508203.1:n.584+19C>T
ENST00000682567.1:n.632+19C>T
ENST00000683521.1:c.555+19C>T	ENSP00000506864.1:n.555+19C>T
ENST00000684483.1:c.555+19C>T	ENSP00000507894.1:n.555+19C>T
ENST00000366560.4:c.555+19C>T MANE Select	ENSP00000355518.4:n.555+19C>T
ENST00000366560.3:c.555+19C>T	ENSP00000355518.3:n.555+19C>T
ENST00000497042.1:n.270C>T
NM_000143.3:c.555+19C>T , LRG_504t1:c.555+19C>T	NP_000134.2:n.555+19C>T
XM_011544132.1:c.327+19C>T	XP_011542434.1:n.327+19C>T
XM_011544132.2:c.327+19C>T	XP_011542434.1:n.327+19C>T
NM_000143.4:c.555+19C>T MANE Select	NP_000134.2:n.555+19C>T