Canonical Allele Identifier: CA345437610

Gene: FH

Linked Data

• gnomAD v4: 1-241502553-G-T
• MyVariant Identifiers: chr1:g.241665853G>T (hg19) ; chr1:g.241502553G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502553G>T , CM000663.2:g.241502553G>T	GRCh38
NC_000001.10:g.241665853G>T , CM000663.1:g.241665853G>T	GRCh37
NC_000001.9:g.239732476G>T	NCBI36
NG_012338.1:g.22202C>A , LRG_504:g.22202C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1629C>A
ENST00000682162.1:c.1155C>A	ENSP00000508203.1:n.1155C>A
ENST00000682567.1:n.2674C>A
ENST00000683521.1:c.1126C>A	ENSP00000506864.1:p.Gln376Lys
ENST00000684161.1:n.2341C>A
ENST00000684483.1:c.*522C>A	ENSP00000507894.1:n.*522C>A
ENST00000366560.4:c.1126C>A MANE Select	ENSP00000355518.4:p.Gln376Lys
ENST00000366560.3:c.1126C>A	ENSP00000355518.3:p.Gln376Lys
NM_000143.3:c.1126C>A , LRG_504t1:c.1126C>A	NP_000134.2:p.Gln376Lys
XM_011544132.1:c.898C>A	XP_011542434.1:p.Gln300Lys
XM_011544132.2:c.898C>A	XP_011542434.1:p.Gln300Lys
NM_000143.4:c.1126C>A MANE Select	NP_000134.2:p.Gln376Lys