Canonical Allele Identifier: CA394458409

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3294527G>T (hg19) ; chr16:g.3244527G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244527G>T , CM000678.2:g.3244527G>T	GRCh38
NC_000016.9:g.3294527G>T , CM000678.1:g.3294527G>T	GRCh37
NC_000016.8:g.3234528G>T	NCBI36
NG_007871.1:g.17101C>A , LRG_190:g.17101C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.793C>A
ENST00000219596.6:c.1672C>A MANE Select	ENSP00000219596.1:p.Gln558Lys
ENST00000219596.5:c.1672C>A	ENSP00000219596.1:p.Gln558Lys
ENST00000339854.8:c.1132C>A	ENSP00000339639.4:p.Gln378Lys
ENST00000536379.5:c.1039C>A	ENSP00000445079.1:p.Gln347Lys
ENST00000536980.5:c.1039C>A	ENSP00000444178.1:p.Gln347Lys
ENST00000537682.5:c.1672C>A	ENSP00000438611.1:p.Gln558Lys
ENST00000538326.5:c.*297C>A	ENSP00000437486.1:n.*297C>A
ENST00000539145.5:c.593C>A	ENSP00000444471.1:n.593C>A
ENST00000541159.5:c.1039C>A	ENSP00000438711.1:p.Gln347Lys
ENST00000542898.5:c.1765C>A	ENSP00000444615.1:p.Gln589Lys
ENST00000570511.5:c.1165-635C>A	ENSP00000458312.1:n.1165-635C>A
ENST00000572244.5:c.362C>A	ENSP00000461186.1:n.362C>A
ENST00000574583.5:c.532-635C>A	ENSP00000460269.1:n.532-635C>A
ENST00000576315.5:c.532-241C>A	ENSP00000460551.1:n.532-241C>A
ENST00000621655.1:c.1039C>A	ENSP00000481436.1:p.Gln347Lys
NM_000243.2:c.1672C>A , LRG_190t1:c.1672C>A	NP_000234.1:p.Gln558Lys
NM_001198536.1:c.1039C>A	NP_001185465.1:p.Gln347Lys
XM_017023236.2:c.1669C>A	XP_016878725.1:p.Gln557Lys
XR_001751903.1:n.1861C>A
NM_000243.3:c.1672C>A MANE Select	NP_000234.1:p.Gln558Lys
NM_001198536.2:c.1039C>A	NP_001185465.2:p.Gln347Lys