Canonical Allele Identifier: CA620433556

Gene: MEFV

Linked Data

• dbSNP Id: rs1258882300
• gnomAD v2: 16-3292949-C-T
• gnomAD v3: 16-3242949-C-T
• gnomAD v4: 16-3242949-C-T
• MyVariant Identifiers: chr16:g.3292949C>T (hg19) ; chr16:g.3242949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242949C>T , CM000678.2:g.3242949C>T	GRCh38
NC_000016.9:g.3292949C>T , CM000678.1:g.3292949C>T	GRCh37
NC_000016.8:g.3232950C>T	NCBI36
NG_007871.1:g.18679G>A , LRG_190:g.18679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1659G>A
ENST00000219596.6:c.*192G>A MANE Select	ENSP00000219596.1:n.*192G>A
ENST00000219596.5:c.*192G>A	ENSP00000219596.1:n.*192G>A
ENST00000339854.8:c.*192G>A	ENSP00000339639.4:n.*192G>A
ENST00000536980.5:c.*814G>A	ENSP00000444178.1:n.*814G>A
ENST00000537682.5:c.*814G>A	ENSP00000438611.1:n.*814G>A
ENST00000538326.5:c.*1163G>A	ENSP00000437486.1:n.*1163G>A
ENST00000542898.5:c.*814G>A	ENSP00000444615.1:n.*814G>A
NM_000243.2:c.*192G>A , LRG_190t1:c.*192G>A	NP_000234.1:n.*192G>A
NM_001198536.1:c.*742G>A	NP_001185465.1:n.*742G>A
NM_000243.3:c.*192G>A MANE Select	NP_000234.1:n.*192G>A
NM_001198536.2:c.*742G>A	NP_001185465.2:n.*742G>A