Canonical Allele Identifier: CA276955172
Gene: MEFV HGNC NCBI

Linked Data

dbSNP Id: rs104895089
gnomAD v4: 16-3243449-T-C
MyVariant Identifiers: chr16:g.3293449T>C (hg19) chr16:g.3243449T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243449T>C , CM000678.2:g.3243449T>C GRCh38
NC_000016.9:g.3293449T>C , CM000678.1:g.3293449T>C GRCh37
NC_000016.8:g.3233450T>C NCBI36
NG_007871.1:g.18179A>G , LRG_190:g.18179A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697124.1:n.1159A>G
ENST00000219596.6:c.2038A>G MANE Select ENSP00000219596.1:p.Met680Val
ENST00000219596.5:c.2038A>G ENSP00000219596.1:p.Met680Val
ENST00000339854.8:c.1498A>G ENSP00000339639.4:p.Met500Val
ENST00000536379.5:c.1405A>G ENSP00000445079.1:p.Met469Val
ENST00000536980.5:c.*314A>G ENSP00000444178.1:n.*314A>G
ENST00000537682.5:c.*314A>G ENSP00000438611.1:n.*314A>G
ENST00000538326.5:c.*663A>G ENSP00000437486.1:n.*663A>G
ENST00000539145.5:c.959A>G ENSP00000444471.1:n.959A>G
ENST00000541159.5:c.1580A>G ENSP00000438711.1:n.1580A>G
ENST00000542898.5:c.*314A>G ENSP00000444615.1:n.*314A>G
ENST00000570511.5:c.1443A>G ENSP00000458312.1:n.1443A>G
ENST00000572244.5:c.728A>G ENSP00000461186.1:n.728A>G
ENST00000574583.5:c.810A>G ENSP00000460269.1:n.810A>G
ENST00000576315.5:c.843A>G ENSP00000460551.1:n.843A>G
ENST00000621655.1:c.1575A>G ENSP00000481436.1:n.1575A>G
NM_000243.2:c.2038A>G , LRG_190t1:c.2038A>G NP_000234.1:p.Met680Val
NM_001198536.1:c.*242A>G NP_001185465.1:n.*242A>G
XM_017023236.2:c.2035A>G XP_016878725.1:p.Met679Val
NM_000243.3:c.2038A>G MANE Select NP_000234.1:p.Met680Val
NM_001198536.2:c.*242A>G NP_001185465.2:n.*242A>G
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