Canonical Allele Identifier: CA394469625

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3299498C>A (hg19) ; chr16:g.3249498C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249498C>A , CM000678.2:g.3249498C>A	GRCh38
NC_000016.9:g.3299498C>A , CM000678.1:g.3299498C>A	GRCh37
NC_000016.8:g.3239499C>A	NCBI36
NG_007871.1:g.12130G>T , LRG_190:g.12130G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1193G>T MANE Select	ENSP00000219596.1:p.Cys398Phe
ENST00000219596.5:c.1193G>T	ENSP00000219596.1:p.Cys398Phe
ENST00000339854.8:c.653G>T	ENSP00000339639.4:p.Cys218Phe
ENST00000536379.5:c.560G>T	ENSP00000445079.1:p.Cys187Phe
ENST00000536980.5:c.560G>T	ENSP00000444178.1:p.Cys187Phe
ENST00000537682.5:c.1193G>T	ENSP00000438611.1:p.Cys398Phe
ENST00000538326.5:c.1193G>T	ENSP00000437486.1:p.Cys398Phe
ENST00000539145.5:c.278-2252G>T	ENSP00000444471.1:n.278-2252G>T
ENST00000541159.5:c.560G>T	ENSP00000438711.1:p.Cys187Phe
ENST00000542898.5:c.1286G>T	ENSP00000444615.1:p.Cys429Phe
ENST00000570511.5:c.911-2252G>T	ENSP00000458312.1:n.911-2252G>T
ENST00000572244.5:c.278-2951G>T	ENSP00000461186.1:n.278-2951G>T
ENST00000574583.5:c.278-2252G>T	ENSP00000460269.1:n.278-2252G>T
ENST00000576315.5:c.278-2252G>T	ENSP00000460551.1:n.278-2252G>T
ENST00000621655.1:c.560G>T	ENSP00000481436.1:p.Cys187Phe
NM_000243.2:c.1193G>T , LRG_190t1:c.1193G>T	NP_000234.1:p.Cys398Phe
NM_001198536.1:c.560G>T	NP_001185465.1:p.Cys187Phe
XM_017023236.2:c.1193G>T	XP_016878725.1:p.Cys398Phe
XR_001751903.1:n.1382G>T
NM_000243.3:c.1193G>T MANE Select	NP_000234.1:p.Cys398Phe
NM_001198536.2:c.560G>T	NP_001185465.2:p.Cys187Phe