Canonical Allele Identifier: CA394490492
Gene: MEFV HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3244280A>G , CM000678.2:g.3244280A>G GRCh38
NC_000016.9:g.3294280A>G , CM000678.1:g.3294280A>G GRCh37
NC_000016.8:g.3234281A>G NCBI36
NG_007871.1:g.17348T>C , LRG_190:g.17348T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.854T>C
ENST00000219596.6:c.1733T>C MANE Select ENSP00000219596.1:p.Leu578Pro
ENST00000219596.5:c.1733T>C ENSP00000219596.1:p.Leu578Pro
ENST00000339854.8:c.1193T>C ENSP00000339639.4:p.Leu398Pro
ENST00000536379.5:c.1100T>C ENSP00000445079.1:p.Leu367Pro
ENST00000536980.5:c.1100T>C ENSP00000444178.1:p.Leu367Pro
ENST00000537682.5:c.1733T>C ENSP00000438611.1:p.Leu578Pro
ENST00000538326.5:c.*358T>C ENSP00000437486.1:n.*358T>C
ENST00000539145.5:c.654T>C ENSP00000444471.1:n.654T>C
ENST00000541159.5:c.1100T>C ENSP00000438711.1:p.Leu367Pro
ENST00000542898.5:c.1826T>C ENSP00000444615.1:p.Leu609Pro
ENST00000570511.5:c.1165-388T>C ENSP00000458312.1:n.1165-388T>C
ENST00000572244.5:c.423T>C ENSP00000461186.1:n.423T>C
ENST00000574583.5:c.532-388T>C ENSP00000460269.1:n.532-388T>C
ENST00000576315.5:c.538T>C ENSP00000460551.1:n.538T>C
ENST00000621655.1:c.1100T>C ENSP00000481436.1:p.Leu367Pro
NM_000243.2:c.1733T>C , LRG_190t1:c.1733T>C NP_000234.1:p.Leu578Pro
NM_001198536.1:c.1100T>C NP_001185465.1:p.Leu367Pro
XM_017023236.2:c.1730T>C XP_016878725.1:p.Leu577Pro
XR_001751903.1:n.1922T>C
NM_000243.3:c.1733T>C MANE Select NP_000234.1:p.Leu578Pro
NM_001198536.2:c.1100T>C NP_001185465.2:p.Leu367Pro