Canonical Allele Identifier: CA493257557

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293162C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243162C>A , CM000678.2:g.3243162C>A	GRCh38
NC_000016.9:g.3293162C>A , CM000678.1:g.3293162C>A	GRCh37
NC_000016.8:g.3233163C>A	NCBI36
NG_007871.1:g.18466G>T , LRG_190:g.18466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1446G>T
ENST00000219596.6:c.2325G>T MANE Select	ENSP00000219596.1:p.Val775=
ENST00000219596.5:c.2325G>T	ENSP00000219596.1:p.Val775=
ENST00000339854.8:c.1785G>T	ENSP00000339639.4:p.Val595=
ENST00000536379.5:c.1692G>T	ENSP00000445079.1:p.Val564=
ENST00000536980.5:c.*601G>T	ENSP00000444178.1:n.*601G>T
ENST00000537682.5:c.*601G>T	ENSP00000438611.1:n.*601G>T
ENST00000538326.5:c.*950G>T	ENSP00000437486.1:n.*950G>T
ENST00000539145.5:c.1246G>T	ENSP00000444471.1:n.1246G>T
ENST00000541159.5:c.1867G>T	ENSP00000438711.1:n.1867G>T
ENST00000542898.5:c.*601G>T	ENSP00000444615.1:n.*601G>T
ENST00000570511.5:c.1730G>T	ENSP00000458312.1:n.1730G>T
ENST00000572244.5:c.1015G>T	ENSP00000461186.1:n.1015G>T
ENST00000574583.5:c.1097G>T	ENSP00000460269.1:n.1097G>T
ENST00000576315.5:c.1130G>T	ENSP00000460551.1:n.1130G>T
ENST00000621655.1:c.1862G>T	ENSP00000481436.1:n.1862G>T
NM_000243.2:c.2325G>T , LRG_190t1:c.2325G>T	NP_000234.1:p.Val775=
NM_001198536.1:c.*529G>T	NP_001185465.1:n.*529G>T
XM_017023236.2:c.2322G>T	XP_016878725.1:p.Val774=
NM_000243.3:c.2325G>T MANE Select	NP_000234.1:p.Val775=
NM_001198536.2:c.*529G>T	NP_001185465.2:n.*529G>T