Canonical Allele Identifier: CA394469541

Gene: MEFV

Linked Data

• gnomAD v4: 16-3249489-C-A
• MyVariant Identifiers: chr16:g.3299489C>A (hg19) ; chr16:g.3249489C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249489C>A , CM000678.2:g.3249489C>A	GRCh38
NC_000016.9:g.3299489C>A , CM000678.1:g.3299489C>A	GRCh37
NC_000016.8:g.3239490C>A	NCBI36
NG_007871.1:g.12139G>T , LRG_190:g.12139G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1202G>T MANE Select	ENSP00000219596.1:p.Ser401Ile
ENST00000219596.5:c.1202G>T	ENSP00000219596.1:p.Ser401Ile
ENST00000339854.8:c.662G>T	ENSP00000339639.4:p.Ser221Ile
ENST00000536379.5:c.569G>T	ENSP00000445079.1:p.Ser190Ile
ENST00000536980.5:c.569G>T	ENSP00000444178.1:p.Ser190Ile
ENST00000537682.5:c.1202G>T	ENSP00000438611.1:p.Ser401Ile
ENST00000538326.5:c.1202G>T	ENSP00000437486.1:p.Ser401Ile
ENST00000539145.5:c.278-2243G>T	ENSP00000444471.1:n.278-2243G>T
ENST00000541159.5:c.569G>T	ENSP00000438711.1:p.Ser190Ile
ENST00000542898.5:c.1295G>T	ENSP00000444615.1:p.Ser432Ile
ENST00000570511.5:c.911-2243G>T	ENSP00000458312.1:n.911-2243G>T
ENST00000572244.5:c.278-2942G>T	ENSP00000461186.1:n.278-2942G>T
ENST00000574583.5:c.278-2243G>T	ENSP00000460269.1:n.278-2243G>T
ENST00000576315.5:c.278-2243G>T	ENSP00000460551.1:n.278-2243G>T
ENST00000621655.1:c.569G>T	ENSP00000481436.1:p.Ser190Ile
NM_000243.2:c.1202G>T , LRG_190t1:c.1202G>T	NP_000234.1:p.Ser401Ile
NM_001198536.1:c.569G>T	NP_001185465.1:p.Ser190Ile
XM_017023236.2:c.1202G>T	XP_016878725.1:p.Ser401Ile
XR_001751903.1:n.1391G>T
NM_000243.3:c.1202G>T MANE Select	NP_000234.1:p.Ser401Ile
NM_001198536.2:c.569G>T	NP_001185465.2:p.Ser190Ile