Canonical Allele Identifier: CA40331719

Gene: FH

Linked Data

• dbSNP Id: rs1026317363
• gnomAD v3: 1-241511910-A-C
• gnomAD v4: 1-241511910-A-C
• MyVariant Identifiers: chr1:g.241675210A>C (hg19) ; chr1:g.241511910A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511910A>C , CM000663.2:g.241511910A>C	GRCh38
NC_000001.10:g.241675210A>C , CM000663.1:g.241675210A>C	GRCh37
NC_000001.9:g.239741833A>C	NCBI36
NG_012338.1:g.12845T>G , LRG_504:g.12845T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1058+57T>G
ENST00000682162.1:c.584+57T>G	ENSP00000508203.1:n.584+57T>G
ENST00000682567.1:n.632+57T>G
ENST00000683521.1:c.555+57T>G	ENSP00000506864.1:n.555+57T>G
ENST00000684483.1:c.555+57T>G	ENSP00000507894.1:n.555+57T>G
ENST00000366560.4:c.555+57T>G MANE Select	ENSP00000355518.4:n.555+57T>G
ENST00000366560.3:c.555+57T>G	ENSP00000355518.3:n.555+57T>G
ENST00000497042.1:n.308T>G
NM_000143.3:c.555+57T>G , LRG_504t1:c.555+57T>G	NP_000134.2:n.555+57T>G
XM_011544132.1:c.327+57T>G	XP_011542434.1:n.327+57T>G
XM_011544132.2:c.327+57T>G	XP_011542434.1:n.327+57T>G
NM_000143.4:c.555+57T>G MANE Select	NP_000134.2:n.555+57T>G