Canonical Allele Identifier: CA7860407
Gene: MEFV HGNC NCBI

Linked Data

dbSNP Id: rs104895211
gnomAD v2: 16-3304553-T-A
gnomAD v4: 16-3254553-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3254553T>A , CM000678.2:g.3254553T>A GRCh38
NC_000016.9:g.3304553T>A , CM000678.1:g.3304553T>A GRCh37
NC_000016.8:g.3244554T>A NCBI36
NG_007871.1:g.7075A>T , LRG_190:g.7075A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000219596.6:c.515A>T MANE Select ENSP00000219596.1:p.Gln172Leu
ENST00000219596.5:c.515A>T ENSP00000219596.1:p.Gln172Leu
ENST00000339854.8:c.277+1758A>T ENSP00000339639.4:n.277+1758A>T
ENST00000536379.5:c.277+1758A>T ENSP00000445079.1:n.277+1758A>T
ENST00000536980.5:c.277+1758A>T ENSP00000444178.1:n.277+1758A>T
ENST00000537682.5:c.515A>T ENSP00000438611.1:p.Gln172Leu
ENST00000538326.5:c.515A>T ENSP00000437486.1:p.Gln172Leu
ENST00000539145.5:c.277+1758A>T ENSP00000444471.1:n.277+1758A>T
ENST00000541159.5:c.277+1758A>T ENSP00000438711.1:n.277+1758A>T
ENST00000542898.5:c.515A>T ENSP00000444615.1:p.Gln172Leu
ENST00000570511.5:c.515A>T ENSP00000458312.1:p.Gln172Leu
ENST00000572244.5:c.277+1758A>T ENSP00000461186.1:n.277+1758A>T
ENST00000574583.5:c.277+1758A>T ENSP00000460269.1:n.277+1758A>T
ENST00000576315.5:c.277+1758A>T ENSP00000460551.1:n.277+1758A>T
ENST00000621655.1:c.277+1758A>T ENSP00000481436.1:n.277+1758A>T
NM_000243.2:c.515A>T , LRG_190t1:c.515A>T NP_000234.1:p.Gln172Leu
NM_001198536.1:c.277+1758A>T NP_001185465.1:n.277+1758A>T
XM_017023236.2:c.515A>T XP_016878725.1:p.Gln172Leu
XR_001751903.1:n.704A>T
NM_000243.3:c.515A>T MANE Select NP_000234.1:p.Gln172Leu
NM_001198536.2:c.277+1758A>T NP_001185465.2:n.277+1758A>T