Canonical Allele Identifier: CA7859924

Gene: MEFV

Linked Data

• dbSNP Id: rs754163287
• ExAC: 16:3293863 C / G
• gnomAD v2: 16-3293863-C-G
• gnomAD v4: 16-3243863-C-G
• MyVariant Identifiers: chr16:g.3293863C>G (hg19) ; chr16:g.3243863C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243863C>G , CM000678.2:g.3243863C>G	GRCh38
NC_000016.9:g.3293863C>G , CM000678.1:g.3293863C>G	GRCh37
NC_000016.8:g.3233864C>G	NCBI36
NG_007871.1:g.17765G>C , LRG_190:g.17765G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.910G>C
ENST00000219596.6:c.1789G>C MANE Select	ENSP00000219596.1:p.Ala597Pro
ENST00000219596.5:c.1789G>C	ENSP00000219596.1:p.Ala597Pro
ENST00000339854.8:c.1249G>C	ENSP00000339639.4:p.Ala417Pro
ENST00000536379.5:c.1156G>C	ENSP00000445079.1:p.Ala386Pro
ENST00000536980.5:c.*65G>C	ENSP00000444178.1:n.*65G>C
ENST00000537682.5:c.*65G>C	ENSP00000438611.1:n.*65G>C
ENST00000538326.5:c.*414G>C	ENSP00000437486.1:n.*414G>C
ENST00000539145.5:c.710G>C	ENSP00000444471.1:n.710G>C
ENST00000541159.5:c.1331G>C	ENSP00000438711.1:p.Cys444Ser
ENST00000542898.5:c.*65G>C	ENSP00000444615.1:n.*65G>C
ENST00000570511.5:c.1194G>C	ENSP00000458312.1:n.1194G>C
ENST00000572244.5:c.479G>C	ENSP00000461186.1:n.479G>C
ENST00000574583.5:c.561G>C	ENSP00000460269.1:n.561G>C
ENST00000576315.5:c.594G>C	ENSP00000460551.1:n.594G>C
ENST00000621655.1:c.1326G>C	ENSP00000481436.1:n.1326G>C
NM_000243.2:c.1789G>C , LRG_190t1:c.1789G>C	NP_000234.1:p.Ala597Pro
NM_001198536.1:c.1331G>C	NP_001185465.1:p.Cys444Ser
XM_017023236.2:c.1786G>C	XP_016878725.1:p.Ala596Pro
XR_001751903.1:n.2096G>C
NM_000243.3:c.1789G>C MANE Select	NP_000234.1:p.Ala597Pro
NM_001198536.2:c.1331G>C	NP_001185465.2:p.Cys444Ser