Canonical Allele Identifier: CA276954816

Gene: MEFV

Linked Data

• dbSNP Id: rs1023034951
• gnomAD v3: 16-3243009-G-A
• gnomAD v4: 16-3243009-G-A
• MyVariant Identifiers: chr16:g.3293009G>A (hg19) ; chr16:g.3243009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243009G>A , CM000678.2:g.3243009G>A	GRCh38
NC_000016.9:g.3293009G>A , CM000678.1:g.3293009G>A	GRCh37
NC_000016.8:g.3233010G>A	NCBI36
NG_007871.1:g.18619C>T , LRG_190:g.18619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1599C>T
ENST00000219596.6:c.*132C>T MANE Select	ENSP00000219596.1:n.*132C>T
ENST00000219596.5:c.*132C>T	ENSP00000219596.1:n.*132C>T
ENST00000339854.8:c.*132C>T	ENSP00000339639.4:n.*132C>T
ENST00000536980.5:c.*754C>T	ENSP00000444178.1:n.*754C>T
ENST00000537682.5:c.*754C>T	ENSP00000438611.1:n.*754C>T
ENST00000538326.5:c.*1103C>T	ENSP00000437486.1:n.*1103C>T
ENST00000542898.5:c.*754C>T	ENSP00000444615.1:n.*754C>T
NM_000243.2:c.*132C>T , LRG_190t1:c.*132C>T	NP_000234.1:n.*132C>T
NM_001198536.1:c.*682C>T	NP_001185465.1:n.*682C>T
NM_000243.3:c.*132C>T MANE Select	NP_000234.1:n.*132C>T
NM_001198536.2:c.*682C>T	NP_001185465.2:n.*682C>T