Canonical Allele Identifier: CA394486129

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293408C>A (hg19) ; chr16:g.3243408C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243408C>A , CM000678.2:g.3243408C>A	GRCh38
NC_000016.9:g.3293408C>A , CM000678.1:g.3293408C>A	GRCh37
NC_000016.8:g.3233409C>A	NCBI36
NG_007871.1:g.18220G>T , LRG_190:g.18220G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1200G>T
ENST00000219596.6:c.2079G>T MANE Select	ENSP00000219596.1:p.Met693Ile
ENST00000219596.5:c.2079G>T	ENSP00000219596.1:p.Met693Ile
ENST00000339854.8:c.1539G>T	ENSP00000339639.4:p.Met513Ile
ENST00000536379.5:c.1446G>T	ENSP00000445079.1:p.Met482Ile
ENST00000536980.5:c.*355G>T	ENSP00000444178.1:n.*355G>T
ENST00000537682.5:c.*355G>T	ENSP00000438611.1:n.*355G>T
ENST00000538326.5:c.*704G>T	ENSP00000437486.1:n.*704G>T
ENST00000539145.5:c.1000G>T	ENSP00000444471.1:n.1000G>T
ENST00000541159.5:c.1621G>T	ENSP00000438711.1:n.1621G>T
ENST00000542898.5:c.*355G>T	ENSP00000444615.1:n.*355G>T
ENST00000570511.5:c.1484G>T	ENSP00000458312.1:n.1484G>T
ENST00000572244.5:c.769G>T	ENSP00000461186.1:n.769G>T
ENST00000574583.5:c.851G>T	ENSP00000460269.1:n.851G>T
ENST00000576315.5:c.884G>T	ENSP00000460551.1:n.884G>T
ENST00000621655.1:c.1616G>T	ENSP00000481436.1:n.1616G>T
NM_000243.2:c.2079G>T , LRG_190t1:c.2079G>T	NP_000234.1:p.Met693Ile
NM_001198536.1:c.*283G>T	NP_001185465.1:n.*283G>T
XM_017023236.2:c.2076G>T	XP_016878725.1:p.Met692Ile
NM_000243.3:c.2079G>T MANE Select	NP_000234.1:p.Met693Ile
NM_001198536.2:c.*283G>T	NP_001185465.2:n.*283G>T