Canonical Allele Identifier: CA973870911

Gene: MEFV

Linked Data

• dbSNP Id: rs1958905139
• gnomAD v3: 16-3244223-G-A
• gnomAD v4: 16-3244223-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244223G>A , CM000678.2:g.3244223G>A	GRCh38
NC_000016.9:g.3294223G>A , CM000678.1:g.3294223G>A	GRCh37
NC_000016.8:g.3234224G>A	NCBI36
NG_007871.1:g.17405C>T , LRG_190:g.17405C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.880+31C>T
ENST00000219596.6:c.1759+31C>T MANE Select	ENSP00000219596.1:n.1759+31C>T
ENST00000219596.5:c.1759+31C>T	ENSP00000219596.1:n.1759+31C>T
ENST00000339854.8:c.1219+31C>T	ENSP00000339639.4:n.1219+31C>T
ENST00000536379.5:c.1126+31C>T	ENSP00000445079.1:n.1126+31C>T
ENST00000536980.5:c.1157C>T	ENSP00000444178.1:p.Pro386Leu
ENST00000537682.5:c.1790C>T	ENSP00000438611.1:p.Pro597Leu
ENST00000538326.5:c.*384+31C>T	ENSP00000437486.1:n.*384+31C>T
ENST00000539145.5:c.680+31C>T	ENSP00000444471.1:n.680+31C>T
ENST00000541159.5:c.1126+31C>T	ENSP00000438711.1:n.1126+31C>T
ENST00000542898.5:c.1883C>T	ENSP00000444615.1:p.Pro628Leu
ENST00000570511.5:c.1165-331C>T	ENSP00000458312.1:n.1165-331C>T
ENST00000572244.5:c.449+31C>T	ENSP00000461186.1:n.449+31C>T
ENST00000574583.5:c.532-331C>T	ENSP00000460269.1:n.532-331C>T
ENST00000576315.5:c.564+31C>T	ENSP00000460551.1:n.564+31C>T
ENST00000621655.1:c.1126+31C>T	ENSP00000481436.1:n.1126+31C>T
NM_000243.2:c.1759+31C>T , LRG_190t1:c.1759+31C>T	NP_000234.1:n.1759+31C>T
NM_001198536.1:c.1126+31C>T	NP_001185465.1:n.1126+31C>T
XM_017023236.2:c.1756+31C>T	XP_016878725.1:n.1756+31C>T
XR_001751903.1:n.1979C>T
NM_000243.3:c.1759+31C>T MANE Select	NP_000234.1:n.1759+31C>T
NM_001198536.2:c.1126+31C>T	NP_001185465.2:n.1126+31C>T