Canonical Allele Identifier: CA276955137
Gene: MEFV HGNC NCBI

Linked Data

dbSNP Id: rs28940577
MyVariant Identifiers: chr16:g.3293410T>C (hg19) chr16:g.3243410T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243410T>C , CM000678.2:g.3243410T>C GRCh38
NC_000016.9:g.3293410T>C , CM000678.1:g.3293410T>C GRCh37
NC_000016.8:g.3233411T>C NCBI36
NG_007871.1:g.18218A>G , LRG_190:g.18218A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697124.1:n.1198A>G
ENST00000219596.6:c.2077A>G MANE Select ENSP00000219596.1:p.Met693Val
ENST00000219596.5:c.2077A>G ENSP00000219596.1:p.Met693Val
ENST00000339854.8:c.1537A>G ENSP00000339639.4:p.Met513Val
ENST00000536379.5:c.1444A>G ENSP00000445079.1:p.Met482Val
ENST00000536980.5:c.*353A>G ENSP00000444178.1:n.*353A>G
ENST00000537682.5:c.*353A>G ENSP00000438611.1:n.*353A>G
ENST00000538326.5:c.*702A>G ENSP00000437486.1:n.*702A>G
ENST00000539145.5:c.998A>G ENSP00000444471.1:n.998A>G
ENST00000541159.5:c.1619A>G ENSP00000438711.1:n.1619A>G
ENST00000542898.5:c.*353A>G ENSP00000444615.1:n.*353A>G
ENST00000570511.5:c.1482A>G ENSP00000458312.1:n.1482A>G
ENST00000572244.5:c.767A>G ENSP00000461186.1:n.767A>G
ENST00000574583.5:c.849A>G ENSP00000460269.1:n.849A>G
ENST00000576315.5:c.882A>G ENSP00000460551.1:n.882A>G
ENST00000621655.1:c.1614A>G ENSP00000481436.1:n.1614A>G
NM_000243.2:c.2077A>G , LRG_190t1:c.2077A>G NP_000234.1:p.Met693Val
NM_001198536.1:c.*281A>G NP_001185465.1:n.*281A>G
XM_017023236.2:c.2074A>G XP_016878725.1:p.Met692Val
NM_000243.3:c.2077A>G MANE Select NP_000234.1:p.Met693Val
NM_001198536.2:c.*281A>G NP_001185465.2:n.*281A>G
Search 100 bp 5'
Search 100 bp 3'