Canonical Allele Identifier: CA280107
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 2548
dbSNP Id: rs61732874
gnomAD v2: 16-3293257-C-A
gnomAD v3: 16-3243257-C-A
gnomAD v4: 16-3243257-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243257C>A , CM000678.2:g.3243257C>A GRCh38
NC_000016.9:g.3293257C>A , CM000678.1:g.3293257C>A GRCh37
NC_000016.8:g.3233258C>A NCBI36
NG_007871.1:g.18371G>T , LRG_190:g.18371G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1351G>T
ENST00000219596.6:c.2230G>T MANE Select ENSP00000219596.1:p.Ala744Ser
ENST00000219596.5:c.2230G>T ENSP00000219596.1:p.Ala744Ser
ENST00000339854.8:c.1690G>T ENSP00000339639.4:p.Ala564Ser
ENST00000536379.5:c.1597G>T ENSP00000445079.1:p.Ala533Ser
ENST00000536980.5:c.*506G>T ENSP00000444178.1:n.*506G>T
ENST00000537682.5:c.*506G>T ENSP00000438611.1:n.*506G>T
ENST00000538326.5:c.*855G>T ENSP00000437486.1:n.*855G>T
ENST00000539145.5:c.1151G>T ENSP00000444471.1:n.1151G>T
ENST00000541159.5:c.1772G>T ENSP00000438711.1:n.1772G>T
ENST00000542898.5:c.*506G>T ENSP00000444615.1:n.*506G>T
ENST00000570511.5:c.1635G>T ENSP00000458312.1:n.1635G>T
ENST00000572244.5:c.920G>T ENSP00000461186.1:n.920G>T
ENST00000574583.5:c.1002G>T ENSP00000460269.1:n.1002G>T
ENST00000576315.5:c.1035G>T ENSP00000460551.1:n.1035G>T
ENST00000621655.1:c.1767G>T ENSP00000481436.1:n.1767G>T
NM_000243.2:c.2230G>T , LRG_190t1:c.2230G>T NP_000234.1:p.Ala744Ser
NM_001198536.1:c.*434G>T NP_001185465.1:n.*434G>T
XM_017023236.2:c.2227G>T XP_016878725.1:p.Ala743Ser
NM_000243.3:c.2230G>T MANE Select NP_000234.1:p.Ala744Ser
NM_001198536.2:c.*434G>T NP_001185465.2:n.*434G>T