Canonical Allele Identifier: CA493257941

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243210-C-A
• MyVariant Identifiers: chr16:g.3293210C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243210C>A , CM000678.2:g.3243210C>A	GRCh38
NC_000016.9:g.3293210C>A , CM000678.1:g.3293210C>A	GRCh37
NC_000016.8:g.3233211C>A	NCBI36
NG_007871.1:g.18418G>T , LRG_190:g.18418G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1398G>T
ENST00000219596.6:c.2277G>T MANE Select	ENSP00000219596.1:p.Gly759=
ENST00000219596.5:c.2277G>T	ENSP00000219596.1:p.Gly759=
ENST00000339854.8:c.1737G>T	ENSP00000339639.4:p.Gly579=
ENST00000536379.5:c.1644G>T	ENSP00000445079.1:p.Gly548=
ENST00000536980.5:c.*553G>T	ENSP00000444178.1:n.*553G>T
ENST00000537682.5:c.*553G>T	ENSP00000438611.1:n.*553G>T
ENST00000538326.5:c.*902G>T	ENSP00000437486.1:n.*902G>T
ENST00000539145.5:c.1198G>T	ENSP00000444471.1:n.1198G>T
ENST00000541159.5:c.1819G>T	ENSP00000438711.1:n.1819G>T
ENST00000542898.5:c.*553G>T	ENSP00000444615.1:n.*553G>T
ENST00000570511.5:c.1682G>T	ENSP00000458312.1:n.1682G>T
ENST00000572244.5:c.967G>T	ENSP00000461186.1:n.967G>T
ENST00000574583.5:c.1049G>T	ENSP00000460269.1:n.1049G>T
ENST00000576315.5:c.1082G>T	ENSP00000460551.1:n.1082G>T
ENST00000621655.1:c.1814G>T	ENSP00000481436.1:n.1814G>T
NM_000243.2:c.2277G>T , LRG_190t1:c.2277G>T	NP_000234.1:p.Gly759=
NM_001198536.1:c.*481G>T	NP_001185465.1:n.*481G>T
XM_017023236.2:c.2274G>T	XP_016878725.1:p.Gly758=
NM_000243.3:c.2277G>T MANE Select	NP_000234.1:p.Gly759=
NM_001198536.2:c.*481G>T	NP_001185465.2:n.*481G>T