Canonical Allele Identifier: CA276955464

Gene: MEFV

Linked Data

• ClinVar Variation Id: 936102
• ClinVar RCV Id: RCV001204834
• dbSNP Id: rs1028273722
• gnomAD v2: 16-3293860-C-T
• gnomAD v3: 16-3243860-C-T
• gnomAD v4: 16-3243860-C-T
• MyVariant Identifiers: chr16:g.3293860C>T (hg19) ; chr16:g.3243860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243860C>T , CM000678.2:g.3243860C>T	GRCh38
NC_000016.9:g.3293860C>T , CM000678.1:g.3293860C>T	GRCh37
NC_000016.8:g.3233861C>T	NCBI36
NG_007871.1:g.17768G>A , LRG_190:g.17768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.913G>A
ENST00000219596.6:c.1792G>A MANE Select	ENSP00000219596.1:p.Val598Ile
ENST00000219596.5:c.1792G>A	ENSP00000219596.1:p.Val598Ile
ENST00000339854.8:c.1252G>A	ENSP00000339639.4:p.Val418Ile
ENST00000536379.5:c.1159G>A	ENSP00000445079.1:p.Val387Ile
ENST00000536980.5:c.*68G>A	ENSP00000444178.1:n.*68G>A
ENST00000537682.5:c.*68G>A	ENSP00000438611.1:n.*68G>A
ENST00000538326.5:c.*417G>A	ENSP00000437486.1:n.*417G>A
ENST00000539145.5:c.713G>A	ENSP00000444471.1:n.713G>A
ENST00000541159.5:c.1334G>A	ENSP00000438711.1:p.Cys445Tyr
ENST00000542898.5:c.*68G>A	ENSP00000444615.1:n.*68G>A
ENST00000570511.5:c.1197G>A	ENSP00000458312.1:n.1197G>A
ENST00000572244.5:c.482G>A	ENSP00000461186.1:n.482G>A
ENST00000574583.5:c.564G>A	ENSP00000460269.1:n.564G>A
ENST00000576315.5:c.597G>A	ENSP00000460551.1:n.597G>A
ENST00000621655.1:c.1329G>A	ENSP00000481436.1:n.1329G>A
NM_000243.2:c.1792G>A , LRG_190t1:c.1792G>A	NP_000234.1:p.Val598Ile
NM_001198536.1:c.1334G>A	NP_001185465.1:p.Cys445Tyr
XM_017023236.2:c.1789G>A	XP_016878725.1:p.Val597Ile
XR_001751903.1:n.2099G>A
NM_000243.3:c.1792G>A MANE Select	NP_000234.1:p.Val598Ile
NM_001198536.2:c.1334G>A	NP_001185465.2:p.Cys445Tyr