Canonical Allele Identifier: CA394484592

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243197-C-A
• MyVariant Identifiers: chr16:g.3293197C>A (hg19) ; chr16:g.3243197C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243197C>A , CM000678.2:g.3243197C>A	GRCh38
NC_000016.9:g.3293197C>A , CM000678.1:g.3293197C>A	GRCh37
NC_000016.8:g.3233198C>A	NCBI36
NG_007871.1:g.18431G>T , LRG_190:g.18431G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1411G>T
ENST00000219596.6:c.2290G>T MANE Select	ENSP00000219596.1:p.Gly764Trp
ENST00000219596.5:c.2290G>T	ENSP00000219596.1:p.Gly764Trp
ENST00000339854.8:c.1750G>T	ENSP00000339639.4:p.Gly584Trp
ENST00000536379.5:c.1657G>T	ENSP00000445079.1:p.Gly553Trp
ENST00000536980.5:c.*566G>T	ENSP00000444178.1:n.*566G>T
ENST00000537682.5:c.*566G>T	ENSP00000438611.1:n.*566G>T
ENST00000538326.5:c.*915G>T	ENSP00000437486.1:n.*915G>T
ENST00000539145.5:c.1211G>T	ENSP00000444471.1:n.1211G>T
ENST00000541159.5:c.1832G>T	ENSP00000438711.1:n.1832G>T
ENST00000542898.5:c.*566G>T	ENSP00000444615.1:n.*566G>T
ENST00000570511.5:c.1695G>T	ENSP00000458312.1:n.1695G>T
ENST00000572244.5:c.980G>T	ENSP00000461186.1:n.980G>T
ENST00000574583.5:c.1062G>T	ENSP00000460269.1:n.1062G>T
ENST00000576315.5:c.1095G>T	ENSP00000460551.1:n.1095G>T
ENST00000621655.1:c.1827G>T	ENSP00000481436.1:n.1827G>T
NM_000243.2:c.2290G>T , LRG_190t1:c.2290G>T	NP_000234.1:p.Gly764Trp
NM_001198536.1:c.*494G>T	NP_001185465.1:n.*494G>T
XM_017023236.2:c.2287G>T	XP_016878725.1:p.Gly763Trp
NM_000243.3:c.2290G>T MANE Select	NP_000234.1:p.Gly764Trp
NM_001198536.2:c.*494G>T	NP_001185465.2:n.*494G>T