Canonical Allele Identifier: CA394459183

Gene: MEFV

Linked Data

• gnomAD v4: 16-3244586-G-A
• MyVariant Identifiers: chr16:g.3294586G>A (hg19) ; chr16:g.3244586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244586G>A , CM000678.2:g.3244586G>A	GRCh38
NC_000016.9:g.3294586G>A , CM000678.1:g.3294586G>A	GRCh37
NC_000016.8:g.3234587G>A	NCBI36
NG_007871.1:g.17042C>T , LRG_190:g.17042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.734C>T
ENST00000219596.6:c.1613C>T MANE Select	ENSP00000219596.1:p.Ala538Val
ENST00000219596.5:c.1613C>T	ENSP00000219596.1:p.Ala538Val
ENST00000339854.8:c.1073C>T	ENSP00000339639.4:p.Ala358Val
ENST00000536379.5:c.980C>T	ENSP00000445079.1:p.Ala327Val
ENST00000536980.5:c.980C>T	ENSP00000444178.1:p.Ala327Val
ENST00000537682.5:c.1613C>T	ENSP00000438611.1:p.Ala538Val
ENST00000538326.5:c.*238C>T	ENSP00000437486.1:n.*238C>T
ENST00000539145.5:c.534C>T	ENSP00000444471.1:n.534C>T
ENST00000541159.5:c.980C>T	ENSP00000438711.1:p.Ala327Val
ENST00000542898.5:c.1706C>T	ENSP00000444615.1:p.Ala569Val
ENST00000570511.5:c.1165-694C>T	ENSP00000458312.1:n.1165-694C>T
ENST00000572244.5:c.303C>T	ENSP00000461186.1:p.Gly101=
ENST00000574583.5:c.532-694C>T	ENSP00000460269.1:n.532-694C>T
ENST00000576315.5:c.532-300C>T	ENSP00000460551.1:n.532-300C>T
ENST00000621655.1:c.980C>T	ENSP00000481436.1:p.Ala327Val
NM_000243.2:c.1613C>T , LRG_190t1:c.1613C>T	NP_000234.1:p.Ala538Val
NM_001198536.1:c.980C>T	NP_001185465.1:p.Ala327Val
XM_017023236.2:c.1610C>T	XP_016878725.1:p.Ala537Val
XR_001751903.1:n.1802C>T
NM_000243.3:c.1613C>T MANE Select	NP_000234.1:p.Ala538Val
NM_001198536.2:c.980C>T	NP_001185465.2:p.Ala327Val