Canonical Allele Identifier: CA394484254

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1683233
• ClinVar RCV Id: RCV002238560 ; RCV003093912
• dbSNP Id: rs1366885918
• MyVariant Identifiers: chr16:g.3293155G>A (hg19) ; chr16:g.3243155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243155G>A , CM000678.2:g.3243155G>A	GRCh38
NC_000016.9:g.3293155G>A , CM000678.1:g.3293155G>A	GRCh37
NC_000016.8:g.3233156G>A	NCBI36
NG_007871.1:g.18473C>T , LRG_190:g.18473C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1453C>T
ENST00000219596.6:c.2332C>T MANE Select	ENSP00000219596.1:p.Gln778Ter
ENST00000219596.5:c.2332C>T	ENSP00000219596.1:p.Gln778Ter
ENST00000339854.8:c.1792C>T	ENSP00000339639.4:p.Gln598Ter
ENST00000536379.5:c.1699C>T	ENSP00000445079.1:p.Gln567Ter
ENST00000536980.5:c.*608C>T	ENSP00000444178.1:n.*608C>T
ENST00000537682.5:c.*608C>T	ENSP00000438611.1:n.*608C>T
ENST00000538326.5:c.*957C>T	ENSP00000437486.1:n.*957C>T
ENST00000539145.5:c.1253C>T	ENSP00000444471.1:n.1253C>T
ENST00000541159.5:c.1874C>T	ENSP00000438711.1:n.1874C>T
ENST00000542898.5:c.*608C>T	ENSP00000444615.1:n.*608C>T
ENST00000570511.5:c.1737C>T	ENSP00000458312.1:n.1737C>T
ENST00000572244.5:c.1022C>T	ENSP00000461186.1:n.1022C>T
ENST00000574583.5:c.1104C>T	ENSP00000460269.1:n.1104C>T
ENST00000576315.5:c.1137C>T	ENSP00000460551.1:n.1137C>T
ENST00000621655.1:c.1869C>T	ENSP00000481436.1:n.1869C>T
NM_000243.2:c.2332C>T , LRG_190t1:c.2332C>T	NP_000234.1:p.Gln778Ter
NM_001198536.1:c.*536C>T	NP_001185465.1:n.*536C>T
XM_017023236.2:c.2329C>T	XP_016878725.1:p.Gln777Ter
NM_000243.3:c.2332C>T MANE Select	NP_000234.1:p.Gln778Ter
NM_001198536.2:c.*536C>T	NP_001185465.2:n.*536C>T