Canonical Allele Identifier: CA394486111
Gene: MEFV HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.3293405C>A (hg19) chr16:g.3243405C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243405C>A , CM000678.2:g.3243405C>A GRCh38
NC_000016.9:g.3293405C>A , CM000678.1:g.3293405C>A GRCh37
NC_000016.8:g.3233406C>A NCBI36
NG_007871.1:g.18223G>T , LRG_190:g.18223G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000697124.1:n.1203G>T
ENST00000219596.6:c.2082G>T MANE Select ENSP00000219596.1:p.Met694Ile
ENST00000219596.5:c.2082G>T ENSP00000219596.1:p.Met694Ile
ENST00000339854.8:c.1542G>T ENSP00000339639.4:p.Met514Ile
ENST00000536379.5:c.1449G>T ENSP00000445079.1:p.Met483Ile
ENST00000536980.5:c.*358G>T ENSP00000444178.1:n.*358G>T
ENST00000537682.5:c.*358G>T ENSP00000438611.1:n.*358G>T
ENST00000538326.5:c.*707G>T ENSP00000437486.1:n.*707G>T
ENST00000539145.5:c.1003G>T ENSP00000444471.1:n.1003G>T
ENST00000541159.5:c.1624G>T ENSP00000438711.1:n.1624G>T
ENST00000542898.5:c.*358G>T ENSP00000444615.1:n.*358G>T
ENST00000570511.5:c.1487G>T ENSP00000458312.1:n.1487G>T
ENST00000572244.5:c.772G>T ENSP00000461186.1:n.772G>T
ENST00000574583.5:c.854G>T ENSP00000460269.1:n.854G>T
ENST00000576315.5:c.887G>T ENSP00000460551.1:n.887G>T
ENST00000621655.1:c.1619G>T ENSP00000481436.1:n.1619G>T
NM_000243.2:c.2082G>T , LRG_190t1:c.2082G>T NP_000234.1:p.Met694Ile
NM_001198536.1:c.*286G>T NP_001185465.1:n.*286G>T
XM_017023236.2:c.2079G>T XP_016878725.1:p.Met693Ile
NM_000243.3:c.2082G>T MANE Select NP_000234.1:p.Met694Ile
NM_001198536.2:c.*286G>T NP_001185465.2:n.*286G>T
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