Canonical Allele Identifier: CA394463392

Gene: MEFV

Linked Data

• dbSNP Id: rs1486333261
• gnomAD v2: 16-3297054-C-G
• gnomAD v3: 16-3247054-C-G
• gnomAD v4: 16-3247054-C-G
• MyVariant Identifiers: chr16:g.3297054C>G (hg19) ; chr16:g.3247054C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247054C>G , CM000678.2:g.3247054C>G	GRCh38
NC_000016.9:g.3297054C>G , CM000678.1:g.3297054C>G	GRCh37
NC_000016.8:g.3237055C>G	NCBI36
NG_007871.1:g.14574G>C , LRG_190:g.14574G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1549G>C MANE Select	ENSP00000219596.1:p.Glu517Gln
ENST00000219596.5:c.1549G>C	ENSP00000219596.1:p.Glu517Gln
ENST00000339854.8:c.1009G>C	ENSP00000339639.4:p.Glu337Gln
ENST00000536379.5:c.916G>C	ENSP00000445079.1:p.Glu306Gln
ENST00000536980.5:c.916G>C	ENSP00000444178.1:p.Glu306Gln
ENST00000537682.5:c.1549G>C	ENSP00000438611.1:p.Glu517Gln
ENST00000538326.5:c.*174G>C	ENSP00000437486.1:n.*174G>C
ENST00000539145.5:c.470G>C	ENSP00000444471.1:n.470G>C
ENST00000539154.1:n.914G>C
ENST00000541159.5:c.916G>C	ENSP00000438711.1:p.Glu306Gln
ENST00000542898.5:c.1642G>C	ENSP00000444615.1:p.Glu548Gln
ENST00000570511.5:c.1103G>C	ENSP00000458312.1:n.1103G>C
ENST00000572244.5:c.278-507G>C	ENSP00000461186.1:n.278-507G>C
ENST00000574583.5:c.470G>C	ENSP00000460269.1:n.470G>C
ENST00000576315.5:c.470G>C	ENSP00000460551.1:n.470G>C
ENST00000621655.1:c.916G>C	ENSP00000481436.1:p.Glu306Gln
NM_000243.2:c.1549G>C , LRG_190t1:c.1549G>C	NP_000234.1:p.Glu517Gln
NM_001198536.1:c.916G>C	NP_001185465.1:p.Glu306Gln
XM_017023236.2:c.1546G>C	XP_016878725.1:p.Glu516Gln
XR_001751903.1:n.1738G>C
NM_000243.3:c.1549G>C MANE Select	NP_000234.1:p.Glu517Gln
NM_001198536.2:c.916G>C	NP_001185465.2:p.Glu306Gln