Canonical Allele Identifier: CA1229581964

Gene: FH

Linked Data

• dbSNP Id: rs1660091645
• gnomAD v4: 1-241511846-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511846G>A , CM000663.2:g.241511846G>A	GRCh38
NC_000001.10:g.241675146G>A , CM000663.1:g.241675146G>A	GRCh37
NC_000001.9:g.239741769G>A	NCBI36
NG_012338.1:g.12909C>T , LRG_504:g.12909C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+121C>T
ENST00000682162.1:c.584+121C>T	ENSP00000508203.1:n.584+121C>T
ENST00000682567.1:n.632+121C>T
ENST00000683521.1:c.555+121C>T	ENSP00000506864.1:n.555+121C>T
ENST00000684483.1:c.555+121C>T	ENSP00000507894.1:n.555+121C>T
ENST00000366560.4:c.555+121C>T MANE Select	ENSP00000355518.4:n.555+121C>T
ENST00000366560.3:c.555+121C>T	ENSP00000355518.3:n.555+121C>T
NM_000143.3:c.555+121C>T , LRG_504t1:c.555+121C>T	NP_000134.2:n.555+121C>T
XM_011544132.1:c.327+121C>T	XP_011542434.1:n.327+121C>T
XM_011544132.2:c.327+121C>T	XP_011542434.1:n.327+121C>T
NM_000143.4:c.555+121C>T MANE Select	NP_000134.2:n.555+121C>T