Canonical Allele Identifier: CA7859831

Gene: MEFV

Linked Data

• dbSNP Id: rs765049389
• ExAC: 16:3293123 A / G
• gnomAD v2: 16-3293123-A-G
• gnomAD v4: 16-3243123-A-G
• MyVariant Identifiers: chr16:g.3293123A>G (hg19) ; chr16:g.3243123A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243123A>G , CM000678.2:g.3243123A>G	GRCh38
NC_000016.9:g.3293123A>G , CM000678.1:g.3293123A>G	GRCh37
NC_000016.8:g.3233124A>G	NCBI36
NG_007871.1:g.18505T>C , LRG_190:g.18505T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1485T>C
ENST00000219596.6:c.*18T>C MANE Select	ENSP00000219596.1:n.*18T>C
ENST00000219596.5:c.*18T>C	ENSP00000219596.1:n.*18T>C
ENST00000339854.8:c.*18T>C	ENSP00000339639.4:n.*18T>C
ENST00000536980.5:c.*640T>C	ENSP00000444178.1:n.*640T>C
ENST00000537682.5:c.*640T>C	ENSP00000438611.1:n.*640T>C
ENST00000538326.5:c.*989T>C	ENSP00000437486.1:n.*989T>C
ENST00000542898.5:c.*640T>C	ENSP00000444615.1:n.*640T>C
NM_000243.2:c.*18T>C , LRG_190t1:c.*18T>C	NP_000234.1:n.*18T>C
NM_001198536.1:c.*568T>C	NP_001185465.1:n.*568T>C
XM_017023236.2:c.*18T>C	XP_016878725.1:n.*18T>C
NM_000243.3:c.*18T>C MANE Select	NP_000234.1:n.*18T>C
NM_001198536.2:c.*568T>C	NP_001185465.2:n.*568T>C