Canonical Allele Identifier: CA7859999

Gene: MEFV

Linked Data

• dbSNP Id: rs377028531
• ExAC: 16:3294226 C / T
• gnomAD v2: 16-3294226-C-T
• gnomAD v4: 16-3244226-C-T
• MyVariant Identifiers: chr16:g.3294226C>T (hg19) ; chr16:g.3244226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244226C>T , CM000678.2:g.3244226C>T	GRCh38
NC_000016.9:g.3294226C>T , CM000678.1:g.3294226C>T	GRCh37
NC_000016.8:g.3234227C>T	NCBI36
NG_007871.1:g.17402G>A , LRG_190:g.17402G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.880+28G>A
ENST00000219596.6:c.1759+28G>A MANE Select	ENSP00000219596.1:n.1759+28G>A
ENST00000219596.5:c.1759+28G>A	ENSP00000219596.1:n.1759+28G>A
ENST00000339854.8:c.1219+28G>A	ENSP00000339639.4:n.1219+28G>A
ENST00000536379.5:c.1126+28G>A	ENSP00000445079.1:n.1126+28G>A
ENST00000536980.5:c.1154G>A	ENSP00000444178.1:p.Trp385Ter
ENST00000537682.5:c.1787G>A	ENSP00000438611.1:p.Trp596Ter
ENST00000538326.5:c.*384+28G>A	ENSP00000437486.1:n.*384+28G>A
ENST00000539145.5:c.680+28G>A	ENSP00000444471.1:n.680+28G>A
ENST00000541159.5:c.1126+28G>A	ENSP00000438711.1:n.1126+28G>A
ENST00000542898.5:c.1880G>A	ENSP00000444615.1:p.Trp627Ter
ENST00000570511.5:c.1165-334G>A	ENSP00000458312.1:n.1165-334G>A
ENST00000572244.5:c.449+28G>A	ENSP00000461186.1:n.449+28G>A
ENST00000574583.5:c.532-334G>A	ENSP00000460269.1:n.532-334G>A
ENST00000576315.5:c.564+28G>A	ENSP00000460551.1:n.564+28G>A
ENST00000621655.1:c.1126+28G>A	ENSP00000481436.1:n.1126+28G>A
NM_000243.2:c.1759+28G>A , LRG_190t1:c.1759+28G>A	NP_000234.1:n.1759+28G>A
NM_001198536.1:c.1126+28G>A	NP_001185465.1:n.1126+28G>A
XM_017023236.2:c.1756+28G>A	XP_016878725.1:n.1756+28G>A
XR_001751903.1:n.1976G>A
NM_000243.3:c.1759+28G>A MANE Select	NP_000234.1:n.1759+28G>A
NM_001198536.2:c.1126+28G>A	NP_001185465.2:n.1126+28G>A