Canonical Allele Identifier: CA7859869
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 234551
dbSNP Id: rs758628487
gnomAD v2: 16-3293346-G-A
gnomAD v3: 16-3243346-G-A
gnomAD v4: 16-3243346-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243346G>A , CM000678.2:g.3243346G>A GRCh38
NC_000016.9:g.3293346G>A , CM000678.1:g.3293346G>A GRCh37
NC_000016.8:g.3233347G>A NCBI36
NG_007871.1:g.18282C>T , LRG_190:g.18282C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1262C>T
ENST00000219596.6:c.2141C>T MANE Select ENSP00000219596.1:p.Pro714Leu
ENST00000219596.5:c.2141C>T ENSP00000219596.1:p.Pro714Leu
ENST00000339854.8:c.1601C>T ENSP00000339639.4:p.Pro534Leu
ENST00000536379.5:c.1508C>T ENSP00000445079.1:p.Pro503Leu
ENST00000536980.5:c.*417C>T ENSP00000444178.1:n.*417C>T
ENST00000537682.5:c.*417C>T ENSP00000438611.1:n.*417C>T
ENST00000538326.5:c.*766C>T ENSP00000437486.1:n.*766C>T
ENST00000539145.5:c.1062C>T ENSP00000444471.1:n.1062C>T
ENST00000541159.5:c.1683C>T ENSP00000438711.1:n.1683C>T
ENST00000542898.5:c.*417C>T ENSP00000444615.1:n.*417C>T
ENST00000570511.5:c.1546C>T ENSP00000458312.1:n.1546C>T
ENST00000572244.5:c.831C>T ENSP00000461186.1:n.831C>T
ENST00000574583.5:c.913C>T ENSP00000460269.1:n.913C>T
ENST00000576315.5:c.946C>T ENSP00000460551.1:n.946C>T
ENST00000621655.1:c.1678C>T ENSP00000481436.1:n.1678C>T
NM_000243.2:c.2141C>T , LRG_190t1:c.2141C>T NP_000234.1:p.Pro714Leu
NM_001198536.1:c.*345C>T NP_001185465.1:n.*345C>T
XM_017023236.2:c.2138C>T XP_016878725.1:p.Pro713Leu
NM_000243.3:c.2141C>T MANE Select NP_000234.1:p.Pro714Leu
NM_001198536.2:c.*345C>T NP_001185465.2:n.*345C>T