Canonical Allele Identifier: CA424076092

Gene: FH

Linked Data

• gnomAD v4: 1-241508696-A-G
• MyVariant Identifiers: chr1:g.241671996A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508696A>G , CM000663.2:g.241508696A>G	GRCh38
NC_000001.10:g.241671996A>G , CM000663.1:g.241671996A>G	GRCh37
NC_000001.9:g.239738619A>G	NCBI36
NG_012338.1:g.16059T>C , LRG_504:g.16059T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1148T>C
ENST00000682162.1:c.674T>C	ENSP00000508203.1:n.674T>C
ENST00000682567.1:n.722T>C
ENST00000683521.1:c.645T>C	ENSP00000506864.1:p.His215=
ENST00000684161.1:n.1860T>C
ENST00000684483.1:c.*41T>C	ENSP00000507894.1:n.*41T>C
ENST00000366560.4:c.645T>C MANE Select	ENSP00000355518.4:p.His215=
ENST00000366560.3:c.645T>C	ENSP00000355518.3:p.His215=
NM_000143.3:c.645T>C , LRG_504t1:c.645T>C	NP_000134.2:p.His215=
XM_011544132.1:c.417T>C	XP_011542434.1:p.His139=
XM_011544132.2:c.417T>C	XP_011542434.1:p.His139=
NM_000143.4:c.645T>C MANE Select	NP_000134.2:p.His215=