Canonical Allele Identifier: CA733642222

Gene: FH

Linked Data

• dbSNP Id: rs1250962896
• gnomAD v4: 1-241511921-T-G
• MyVariant Identifiers: chr1:g.241675221T>G (hg19) ; chr1:g.241511921T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511921T>G , CM000663.2:g.241511921T>G	GRCh38
NC_000001.10:g.241675221T>G , CM000663.1:g.241675221T>G	GRCh37
NC_000001.9:g.239741844T>G	NCBI36
NG_012338.1:g.12834A>C , LRG_504:g.12834A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+46A>C
ENST00000682162.1:c.584+46A>C	ENSP00000508203.1:n.584+46A>C
ENST00000682567.1:n.632+46A>C
ENST00000683521.1:c.555+46A>C	ENSP00000506864.1:n.555+46A>C
ENST00000684483.1:c.555+46A>C	ENSP00000507894.1:n.555+46A>C
ENST00000366560.4:c.555+46A>C MANE Select	ENSP00000355518.4:n.555+46A>C
ENST00000366560.3:c.555+46A>C	ENSP00000355518.3:n.555+46A>C
ENST00000497042.1:n.297A>C
NM_000143.3:c.555+46A>C , LRG_504t1:c.555+46A>C	NP_000134.2:n.555+46A>C
XM_011544132.1:c.327+46A>C	XP_011542434.1:n.327+46A>C
XM_011544132.2:c.327+46A>C	XP_011542434.1:n.327+46A>C
NM_000143.4:c.555+46A>C MANE Select	NP_000134.2:n.555+46A>C