Canonical Allele Identifier: CA7860029

Gene: MEFV

Linked Data

• dbSNP Id: rs759300401
• ExAC: 16:3294480 G / T
• gnomAD v2: 16-3294480-G-T
• gnomAD v4: 16-3244480-G-T
• MyVariant Identifiers: chr16:g.3294480G>T (hg19) ; chr16:g.3244480G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244480G>T , CM000678.2:g.3244480G>T	GRCh38
NC_000016.9:g.3294480G>T , CM000678.1:g.3294480G>T	GRCh37
NC_000016.8:g.3234481G>T	NCBI36
NG_007871.1:g.17148C>A , LRG_190:g.17148C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.840C>A
ENST00000219596.6:c.1719C>A MANE Select	ENSP00000219596.1:p.Tyr573Ter
ENST00000219596.5:c.1719C>A	ENSP00000219596.1:p.Tyr573Ter
ENST00000339854.8:c.1179C>A	ENSP00000339639.4:p.Tyr393Ter
ENST00000536379.5:c.1086C>A	ENSP00000445079.1:p.Tyr362Ter
ENST00000536980.5:c.1086C>A	ENSP00000444178.1:p.Tyr362Ter
ENST00000537682.5:c.1719C>A	ENSP00000438611.1:p.Tyr573Ter
ENST00000538326.5:c.*344C>A	ENSP00000437486.1:n.*344C>A
ENST00000539145.5:c.640C>A	ENSP00000444471.1:n.640C>A
ENST00000541159.5:c.1086C>A	ENSP00000438711.1:p.Tyr362Ter
ENST00000542898.5:c.1812C>A	ENSP00000444615.1:p.Tyr604Ter
ENST00000570511.5:c.1165-588C>A	ENSP00000458312.1:n.1165-588C>A
ENST00000572244.5:c.409C>A	ENSP00000461186.1:n.409C>A
ENST00000574583.5:c.532-588C>A	ENSP00000460269.1:n.532-588C>A
ENST00000576315.5:c.532-194C>A	ENSP00000460551.1:n.532-194C>A
ENST00000621655.1:c.1086C>A	ENSP00000481436.1:p.Tyr362Ter
NM_000243.2:c.1719C>A , LRG_190t1:c.1719C>A	NP_000234.1:p.Tyr573Ter
NM_001198536.1:c.1086C>A	NP_001185465.1:p.Tyr362Ter
XM_017023236.2:c.1716C>A	XP_016878725.1:p.Tyr572Ter
XR_001751903.1:n.1908C>A
NM_000243.3:c.1719C>A MANE Select	NP_000234.1:p.Tyr573Ter
NM_001198536.2:c.1086C>A	NP_001185465.2:p.Tyr362Ter