Canonical Allele Identifier: CA7860432

Gene: MEFV

Linked Data

• ClinVar Variation Id: 670052
• ClinVar RCV Id: RCV000829179 ; RCV001088841 ; RCV002501163 ; RCV003127485 ; RCV004029209 ; RCV003127486
• dbSNP Id: rs224224
• ExAC: 16:3304654 T / A
• gnomAD v2: 16-3304654-T-A
• gnomAD v3: 16-3254654-T-A
• gnomAD v4: 16-3254654-T-A
• MyVariant Identifiers: chr16:g.3304654T>A (hg19) ; chr16:g.3254654T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254654T>A , CM000678.2:g.3254654T>A	GRCh38
NC_000016.9:g.3304654T>A , CM000678.1:g.3304654T>A	GRCh37
NC_000016.8:g.3244655T>A	NCBI36
NG_007871.1:g.6974A>T , LRG_190:g.6974A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.414A>T MANE Select	ENSP00000219596.1:p.Gly138=
ENST00000219596.5:c.414A>T	ENSP00000219596.1:p.Gly138=
ENST00000339854.8:c.277+1657A>T	ENSP00000339639.4:n.277+1657A>T
ENST00000536379.5:c.277+1657A>T	ENSP00000445079.1:n.277+1657A>T
ENST00000536980.5:c.277+1657A>T	ENSP00000444178.1:n.277+1657A>T
ENST00000537682.5:c.414A>T	ENSP00000438611.1:p.Gly138=
ENST00000538326.5:c.414A>T	ENSP00000437486.1:p.Gly138=
ENST00000539145.5:c.277+1657A>T	ENSP00000444471.1:n.277+1657A>T
ENST00000541159.5:c.277+1657A>T	ENSP00000438711.1:n.277+1657A>T
ENST00000542898.5:c.414A>T	ENSP00000444615.1:p.Gly138=
ENST00000570511.5:c.414A>T	ENSP00000458312.1:p.Gly138=
ENST00000572244.5:c.277+1657A>T	ENSP00000461186.1:n.277+1657A>T
ENST00000574583.5:c.277+1657A>T	ENSP00000460269.1:n.277+1657A>T
ENST00000576315.5:c.277+1657A>T	ENSP00000460551.1:n.277+1657A>T
ENST00000621655.1:c.277+1657A>T	ENSP00000481436.1:n.277+1657A>T
NM_000243.2:c.414A>T , LRG_190t1:c.414A>T	NP_000234.1:p.Gly138=
NM_001198536.1:c.277+1657A>T	NP_001185465.1:n.277+1657A>T
XM_017023236.2:c.414A>T	XP_016878725.1:p.Gly138=
XR_001751903.1:n.603A>T
NM_000243.3:c.414A>T MANE Select	NP_000234.1:p.Gly138=
NM_001198536.2:c.277+1657A>T	NP_001185465.2:n.277+1657A>T