Canonical Allele Identifier: CA40332181

Gene: FH

Linked Data

• dbSNP Id: rs988756118
• MyVariant Identifiers: chr1:g.241675683G>C (hg19) ; chr1:g.241512383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512383G>C , CM000663.2:g.241512383G>C	GRCh38
NC_000001.10:g.241675683G>C , CM000663.1:g.241675683G>C	GRCh37
NC_000001.9:g.239742306G>C	NCBI36
NG_012338.1:g.12372C>G , LRG_504:g.12372C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.882-240C>G
ENST00000682162.1:c.408-240C>G	ENSP00000508203.1:n.408-240C>G
ENST00000682567.1:n.456-240C>G
ENST00000683521.1:c.379-240C>G	ENSP00000506864.1:n.379-240C>G
ENST00000684483.1:c.379-240C>G	ENSP00000507894.1:n.379-240C>G
ENST00000366560.4:c.379-240C>G MANE Select	ENSP00000355518.4:n.379-240C>G
ENST00000366560.3:c.379-240C>G	ENSP00000355518.3:n.379-240C>G
ENST00000497042.1:n.75-240C>G
NM_000143.3:c.379-240C>G , LRG_504t1:c.379-240C>G	NP_000134.2:n.379-240C>G
XM_011544132.1:c.151-240C>G	XP_011542434.1:n.151-240C>G
XM_011544132.2:c.151-240C>G	XP_011542434.1:n.151-240C>G
NM_000143.4:c.379-240C>G MANE Select	NP_000134.2:n.379-240C>G