Canonical Allele Identifier: CA394484377

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1694335
• ClinVar RCV Id: RCV002262057
• dbSNP Id: rs1430125672
• gnomAD v2: 16-3293169-C-T
• gnomAD v3: 16-3243169-C-T
• gnomAD v4: 16-3243169-C-T
• MyVariant Identifiers: chr16:g.3293169C>T (hg19) ; chr16:g.3243169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243169C>T , CM000678.2:g.3243169C>T	GRCh38
NC_000016.9:g.3293169C>T , CM000678.1:g.3293169C>T	GRCh37
NC_000016.8:g.3233170C>T	NCBI36
NG_007871.1:g.18459G>A , LRG_190:g.18459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1439G>A
ENST00000219596.6:c.2318G>A MANE Select	ENSP00000219596.1:p.Cys773Tyr
ENST00000219596.5:c.2318G>A	ENSP00000219596.1:p.Cys773Tyr
ENST00000339854.8:c.1778G>A	ENSP00000339639.4:p.Cys593Tyr
ENST00000536379.5:c.1685G>A	ENSP00000445079.1:p.Cys562Tyr
ENST00000536980.5:c.*594G>A	ENSP00000444178.1:n.*594G>A
ENST00000537682.5:c.*594G>A	ENSP00000438611.1:n.*594G>A
ENST00000538326.5:c.*943G>A	ENSP00000437486.1:n.*943G>A
ENST00000539145.5:c.1239G>A	ENSP00000444471.1:n.1239G>A
ENST00000541159.5:c.1860G>A	ENSP00000438711.1:n.1860G>A
ENST00000542898.5:c.*594G>A	ENSP00000444615.1:n.*594G>A
ENST00000570511.5:c.1723G>A	ENSP00000458312.1:n.1723G>A
ENST00000572244.5:c.1008G>A	ENSP00000461186.1:n.1008G>A
ENST00000574583.5:c.1090G>A	ENSP00000460269.1:n.1090G>A
ENST00000576315.5:c.1123G>A	ENSP00000460551.1:n.1123G>A
ENST00000621655.1:c.1855G>A	ENSP00000481436.1:n.1855G>A
NM_000243.2:c.2318G>A , LRG_190t1:c.2318G>A	NP_000234.1:p.Cys773Tyr
NM_001198536.1:c.*522G>A	NP_001185465.1:n.*522G>A
XM_017023236.2:c.2315G>A	XP_016878725.1:p.Cys772Tyr
NM_000243.3:c.2318G>A MANE Select	NP_000234.1:p.Cys773Tyr
NM_001198536.2:c.*522G>A	NP_001185465.2:n.*522G>A