Canonical Allele Identifier: CA394458677

Gene: MEFV

Linked Data

• dbSNP Id: rs1213004639
• gnomAD v2: 16-3294541-A-G
• gnomAD v3: 16-3244541-A-G
• gnomAD v4: 16-3244541-A-G
• MyVariant Identifiers: chr16:g.3294541A>G (hg19) ; chr16:g.3244541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244541A>G , CM000678.2:g.3244541A>G	GRCh38
NC_000016.9:g.3294541A>G , CM000678.1:g.3294541A>G	GRCh37
NC_000016.8:g.3234542A>G	NCBI36
NG_007871.1:g.17087T>C , LRG_190:g.17087T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.779T>C
ENST00000219596.6:c.1658T>C MANE Select	ENSP00000219596.1:p.Ile553Thr
ENST00000219596.5:c.1658T>C	ENSP00000219596.1:p.Ile553Thr
ENST00000339854.8:c.1118T>C	ENSP00000339639.4:p.Ile373Thr
ENST00000536379.5:c.1025T>C	ENSP00000445079.1:p.Ile342Thr
ENST00000536980.5:c.1025T>C	ENSP00000444178.1:p.Ile342Thr
ENST00000537682.5:c.1658T>C	ENSP00000438611.1:p.Ile553Thr
ENST00000538326.5:c.*283T>C	ENSP00000437486.1:n.*283T>C
ENST00000539145.5:c.579T>C	ENSP00000444471.1:n.579T>C
ENST00000541159.5:c.1025T>C	ENSP00000438711.1:p.Ile342Thr
ENST00000542898.5:c.1751T>C	ENSP00000444615.1:p.Ile584Thr
ENST00000570511.5:c.1165-649T>C	ENSP00000458312.1:n.1165-649T>C
ENST00000572244.5:c.348T>C	ENSP00000461186.1:n.348T>C
ENST00000574583.5:c.532-649T>C	ENSP00000460269.1:n.532-649T>C
ENST00000576315.5:c.532-255T>C	ENSP00000460551.1:n.532-255T>C
ENST00000621655.1:c.1025T>C	ENSP00000481436.1:p.Ile342Thr
NM_000243.2:c.1658T>C , LRG_190t1:c.1658T>C	NP_000234.1:p.Ile553Thr
NM_001198536.1:c.1025T>C	NP_001185465.1:p.Ile342Thr
XM_017023236.2:c.1655T>C	XP_016878725.1:p.Ile552Thr
XR_001751903.1:n.1847T>C
NM_000243.3:c.1658T>C MANE Select	NP_000234.1:p.Ile553Thr
NM_001198536.2:c.1025T>C	NP_001185465.2:p.Ile342Thr