Canonical Allele Identifier: CA1478518

Gene: FH

Linked Data

• dbSNP Id: rs542511255
• ExAC: 1:241665694 A / G
• gnomAD v3: 1-241502394-A-G
• gnomAD v4: 1-241502394-A-G
• MyVariant Identifiers: chr1:g.241665694A>G (hg19) ; chr1:g.241502394A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502394A>G , CM000663.2:g.241502394A>G	GRCh38
NC_000001.10:g.241665694A>G , CM000663.1:g.241665694A>G	GRCh37
NC_000001.9:g.239732317A>G	NCBI36
NG_012338.1:g.22361T>C , LRG_504:g.22361T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1739+49T>C
ENST00000682162.1:c.1265+49T>C	ENSP00000508203.1:n.1265+49T>C
ENST00000682567.1:n.2833T>C
ENST00000683521.1:c.1236+49T>C	ENSP00000506864.1:n.1236+49T>C
ENST00000684161.1:n.2451+49T>C
ENST00000684483.1:c.*632+49T>C	ENSP00000507894.1:n.*632+49T>C
ENST00000366560.4:c.1236+49T>C MANE Select	ENSP00000355518.4:n.1236+49T>C
ENST00000366560.3:c.1236+49T>C	ENSP00000355518.3:n.1236+49T>C
NM_000143.3:c.1236+49T>C , LRG_504t1:c.1236+49T>C	NP_000134.2:n.1236+49T>C
XM_011544132.1:c.1008+49T>C	XP_011542434.1:n.1008+49T>C
XM_011544132.2:c.1008+49T>C	XP_011542434.1:n.1008+49T>C
NM_000143.4:c.1236+49T>C MANE Select	NP_000134.2:n.1236+49T>C