Canonical Allele Identifier: CA394487558

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293547C>A (hg19) ; chr16:g.3243547C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243547C>A , CM000678.2:g.3243547C>A	GRCh38
NC_000016.9:g.3293547C>A , CM000678.1:g.3293547C>A	GRCh37
NC_000016.8:g.3233548C>A	NCBI36
NG_007871.1:g.18081G>T , LRG_190:g.18081G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1061G>T
ENST00000219596.6:c.1940G>T MANE Select	ENSP00000219596.1:p.Ser647Ile
ENST00000219596.5:c.1940G>T	ENSP00000219596.1:p.Ser647Ile
ENST00000339854.8:c.1400G>T	ENSP00000339639.4:p.Ser467Ile
ENST00000536379.5:c.1307G>T	ENSP00000445079.1:p.Ser436Ile
ENST00000536980.5:c.*216G>T	ENSP00000444178.1:n.*216G>T
ENST00000537682.5:c.*216G>T	ENSP00000438611.1:n.*216G>T
ENST00000538326.5:c.*565G>T	ENSP00000437486.1:n.*565G>T
ENST00000539145.5:c.861G>T	ENSP00000444471.1:n.861G>T
ENST00000541159.5:c.1482G>T	ENSP00000438711.1:n.1482G>T
ENST00000542898.5:c.*216G>T	ENSP00000444615.1:n.*216G>T
ENST00000570511.5:c.1345G>T	ENSP00000458312.1:n.1345G>T
ENST00000572244.5:c.630G>T	ENSP00000461186.1:n.630G>T
ENST00000574583.5:c.712G>T	ENSP00000460269.1:n.712G>T
ENST00000576315.5:c.745G>T	ENSP00000460551.1:n.745G>T
ENST00000621655.1:c.1477G>T	ENSP00000481436.1:n.1477G>T
NM_000243.2:c.1940G>T , LRG_190t1:c.1940G>T	NP_000234.1:p.Ser647Ile
NM_001198536.1:c.*144G>T	NP_001185465.1:n.*144G>T
XM_017023236.2:c.1937G>T	XP_016878725.1:p.Ser646Ile
NM_000243.3:c.1940G>T MANE Select	NP_000234.1:p.Ser647Ile
NM_001198536.2:c.*144G>T	NP_001185465.2:n.*144G>T