Canonical Allele Identifier: CA345438143

Gene: FH

Linked Data

• dbSNP Id: rs1553341017
• MyVariant Identifiers: chr1:g.241667404G>A (hg19) ; chr1:g.241504104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504104G>A , CM000663.2:g.241504104G>A	GRCh38
NC_000001.10:g.241667404G>A , CM000663.1:g.241667404G>A	GRCh37
NC_000001.9:g.239734027G>A	NCBI36
NG_012338.1:g.20651C>T , LRG_504:g.20651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1549C>T
ENST00000682162.1:c.1075C>T	ENSP00000508203.1:n.1075C>T
ENST00000682567.1:n.1123C>T
ENST00000683521.1:c.1046C>T	ENSP00000506864.1:p.Pro349Leu
ENST00000684161.1:n.2261C>T
ENST00000684483.1:c.*442C>T	ENSP00000507894.1:n.*442C>T
ENST00000366560.4:c.1046C>T MANE Select	ENSP00000355518.4:p.Pro349Leu
ENST00000366560.3:c.1046C>T	ENSP00000355518.3:p.Pro349Leu
NM_000143.3:c.1046C>T , LRG_504t1:c.1046C>T	NP_000134.2:p.Pro349Leu
XM_011544132.1:c.818C>T	XP_011542434.1:p.Pro273Leu
XM_011544132.2:c.818C>T	XP_011542434.1:p.Pro273Leu
NM_000143.4:c.1046C>T MANE Select	NP_000134.2:p.Pro349Leu