Canonical Allele Identifier: CA394485128

Gene: MEFV

Linked Data

• dbSNP Id: rs1958884433
• gnomAD v3: 16-3243263-T-C
• gnomAD v4: 16-3243263-T-C
• MyVariant Identifiers: chr16:g.3293263T>C (hg19) ; chr16:g.3243263T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243263T>C , CM000678.2:g.3243263T>C	GRCh38
NC_000016.9:g.3293263T>C , CM000678.1:g.3293263T>C	GRCh37
NC_000016.8:g.3233264T>C	NCBI36
NG_007871.1:g.18365A>G , LRG_190:g.18365A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1345A>G
ENST00000219596.6:c.2224A>G MANE Select	ENSP00000219596.1:p.Thr742Ala
ENST00000219596.5:c.2224A>G	ENSP00000219596.1:p.Thr742Ala
ENST00000339854.8:c.1684A>G	ENSP00000339639.4:p.Thr562Ala
ENST00000536379.5:c.1591A>G	ENSP00000445079.1:p.Thr531Ala
ENST00000536980.5:c.*500A>G	ENSP00000444178.1:n.*500A>G
ENST00000537682.5:c.*500A>G	ENSP00000438611.1:n.*500A>G
ENST00000538326.5:c.*849A>G	ENSP00000437486.1:n.*849A>G
ENST00000539145.5:c.1145A>G	ENSP00000444471.1:n.1145A>G
ENST00000541159.5:c.1766A>G	ENSP00000438711.1:n.1766A>G
ENST00000542898.5:c.*500A>G	ENSP00000444615.1:n.*500A>G
ENST00000570511.5:c.1629A>G	ENSP00000458312.1:n.1629A>G
ENST00000572244.5:c.914A>G	ENSP00000461186.1:n.914A>G
ENST00000574583.5:c.996A>G	ENSP00000460269.1:n.996A>G
ENST00000576315.5:c.1029A>G	ENSP00000460551.1:n.1029A>G
ENST00000621655.1:c.1761A>G	ENSP00000481436.1:n.1761A>G
NM_000243.2:c.2224A>G , LRG_190t1:c.2224A>G	NP_000234.1:p.Thr742Ala
NM_001198536.1:c.*428A>G	NP_001185465.1:n.*428A>G
XM_017023236.2:c.2221A>G	XP_016878725.1:p.Thr741Ala
NM_000243.3:c.2224A>G MANE Select	NP_000234.1:p.Thr742Ala
NM_001198536.2:c.*428A>G	NP_001185465.2:n.*428A>G