Canonical Allele Identifier: CA394464575

Gene: MEFV

Linked Data

• gnomAD v4: 16-3247178-C-G
• MyVariant Identifiers: chr16:g.3297178C>G (hg19) ; chr16:g.3247178C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247178C>G , CM000678.2:g.3247178C>G	GRCh38
NC_000016.9:g.3297178C>G , CM000678.1:g.3297178C>G	GRCh37
NC_000016.8:g.3237179C>G	NCBI36
NG_007871.1:g.14450G>C , LRG_190:g.14450G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.1425G>C MANE Select	ENSP00000219596.1:p.Gln475His
ENST00000219596.5:c.1425G>C	ENSP00000219596.1:p.Gln475His
ENST00000339854.8:c.885G>C	ENSP00000339639.4:p.Gln295His
ENST00000536379.5:c.792G>C	ENSP00000445079.1:p.Gln264His
ENST00000536980.5:c.792G>C	ENSP00000444178.1:p.Gln264His
ENST00000537682.5:c.1425G>C	ENSP00000438611.1:p.Gln475His
ENST00000538326.5:c.*50G>C	ENSP00000437486.1:n.*50G>C
ENST00000539145.5:c.346G>C	ENSP00000444471.1:n.346G>C
ENST00000539154.1:n.790G>C
ENST00000541159.5:c.792G>C	ENSP00000438711.1:p.Gln264His
ENST00000542898.5:c.1518G>C	ENSP00000444615.1:p.Gln506His
ENST00000570511.5:c.979G>C	ENSP00000458312.1:n.979G>C
ENST00000572244.5:c.278-631G>C	ENSP00000461186.1:n.278-631G>C
ENST00000574583.5:c.346G>C	ENSP00000460269.1:n.346G>C
ENST00000576315.5:c.346G>C	ENSP00000460551.1:n.346G>C
ENST00000621655.1:c.792G>C	ENSP00000481436.1:p.Gln264His
NM_000243.2:c.1425G>C , LRG_190t1:c.1425G>C	NP_000234.1:p.Gln475His
NM_001198536.1:c.792G>C	NP_001185465.1:p.Gln264His
XM_017023236.2:c.1422G>C	XP_016878725.1:p.Gln474His
XR_001751903.1:n.1614G>C
NM_000243.3:c.1425G>C MANE Select	NP_000234.1:p.Gln475His
NM_001198536.2:c.792G>C	NP_001185465.2:p.Gln264His