Canonical Allele Identifier: CA345441983

Gene: FH

Linked Data

• gnomAD v4: 1-241517289-A-G
• MyVariant Identifiers: chr1:g.241680589A>G (hg19) ; chr1:g.241517289A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517289A>G , CM000663.2:g.241517289A>G	GRCh38
NC_000001.10:g.241680589A>G , CM000663.1:g.241680589A>G	GRCh37
NC_000001.9:g.239747212A>G	NCBI36
NG_012338.1:g.7466T>C , LRG_504:g.7466T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.663T>C
ENST00000682162.1:c.189T>C	ENSP00000508203.1:n.189T>C
ENST00000682567.1:n.237T>C
ENST00000683521.1:c.160T>C	ENSP00000506864.1:p.Tyr54His
ENST00000684483.1:c.160T>C	ENSP00000507894.1:p.Tyr54His
ENST00000366560.4:c.160T>C MANE Select	ENSP00000355518.4:p.Tyr54His
ENST00000366560.3:c.160T>C	ENSP00000355518.3:p.Tyr54His
ENST00000493477.1:n.273T>C
NM_000143.3:c.160T>C , LRG_504t1:c.160T>C	NP_000134.2:p.Tyr54His
XM_011544132.1:c.-69T>C	XP_011542434.1:n.-69T>C
XM_011544132.2:c.-69T>C	XP_011542434.1:n.-69T>C
NM_000143.4:c.160T>C MANE Select	NP_000134.2:p.Tyr54His