Canonical Allele Identifier: CA394481004
Gene: MEFV HGNC NCBI

Linked Data

dbSNP Id: rs1487264767
gnomAD v3: 16-3254552-C-A
gnomAD v4: 16-3254552-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3254552C>A , CM000678.2:g.3254552C>A GRCh38
NC_000016.9:g.3304552C>A , CM000678.1:g.3304552C>A GRCh37
NC_000016.8:g.3244553C>A NCBI36
NG_007871.1:g.7076G>T , LRG_190:g.7076G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000219596.6:c.516G>T MANE Select ENSP00000219596.1:p.Gln172His
ENST00000219596.5:c.516G>T ENSP00000219596.1:p.Gln172His
ENST00000339854.8:c.277+1759G>T ENSP00000339639.4:n.277+1759G>T
ENST00000536379.5:c.277+1759G>T ENSP00000445079.1:n.277+1759G>T
ENST00000536980.5:c.277+1759G>T ENSP00000444178.1:n.277+1759G>T
ENST00000537682.5:c.516G>T ENSP00000438611.1:p.Gln172His
ENST00000538326.5:c.516G>T ENSP00000437486.1:p.Gln172His
ENST00000539145.5:c.277+1759G>T ENSP00000444471.1:n.277+1759G>T
ENST00000541159.5:c.277+1759G>T ENSP00000438711.1:n.277+1759G>T
ENST00000542898.5:c.516G>T ENSP00000444615.1:p.Gln172His
ENST00000570511.5:c.516G>T ENSP00000458312.1:p.Gln172His
ENST00000572244.5:c.277+1759G>T ENSP00000461186.1:n.277+1759G>T
ENST00000574583.5:c.277+1759G>T ENSP00000460269.1:n.277+1759G>T
ENST00000576315.5:c.277+1759G>T ENSP00000460551.1:n.277+1759G>T
ENST00000621655.1:c.277+1759G>T ENSP00000481436.1:n.277+1759G>T
NM_000243.2:c.516G>T , LRG_190t1:c.516G>T NP_000234.1:p.Gln172His
NM_001198536.1:c.277+1759G>T NP_001185465.1:n.277+1759G>T
XM_017023236.2:c.516G>T XP_016878725.1:p.Gln172His
XR_001751903.1:n.705G>T
NM_000243.3:c.516G>T MANE Select NP_000234.1:p.Gln172His
NM_001198536.2:c.277+1759G>T NP_001185465.2:n.277+1759G>T