Canonical Allele Identifier: CA530378919

Gene: FH

Linked Data

• dbSNP Id: rs1191493601
• gnomAD v2: 1-241663686-A-C
• gnomAD v4: 1-241500386-A-C
• MyVariant Identifiers: chr1:g.241663686A>C (hg19) ; chr1:g.241500386A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500386A>C , CM000663.2:g.241500386A>C	GRCh38
NC_000001.10:g.241663686A>C , CM000663.1:g.241663686A>C	GRCh37
NC_000001.9:g.239730309A>C	NCBI36
NG_012338.1:g.24369T>G , LRG_504:g.24369T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1893+51T>G
ENST00000682162.1:c.1419+51T>G	ENSP00000508203.1:n.1419+51T>G
ENST00000682567.1:n.4790+51T>G
ENST00000683521.1:c.1441T>G	ENSP00000506864.1:p.Ter481Glu
ENST00000684161.1:n.2605+51T>G
ENST00000684483.1:c.*786+51T>G	ENSP00000507894.1:n.*786+51T>G
ENST00000366560.4:c.1390+51T>G MANE Select	ENSP00000355518.4:n.1390+51T>G
ENST00000366560.3:c.1390+51T>G	ENSP00000355518.3:n.1390+51T>G
NM_000143.3:c.1390+51T>G , LRG_504t1:c.1390+51T>G	NP_000134.2:n.1390+51T>G
XM_011544132.1:c.1162+51T>G	XP_011542434.1:n.1162+51T>G
XM_011544132.2:c.1162+51T>G	XP_011542434.1:n.1162+51T>G
NM_000143.4:c.1390+51T>G MANE Select	NP_000134.2:n.1390+51T>G