Canonical Allele Identifier: CA394485362

Gene: MEFV

Linked Data

• dbSNP Id: rs1245305931
• gnomAD v2: 16-3293293-A-C
• gnomAD v3: 16-3243293-A-C
• gnomAD v4: 16-3243293-A-C
• MyVariant Identifiers: chr16:g.3293293A>C (hg19) ; chr16:g.3243293A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243293A>C , CM000678.2:g.3243293A>C	GRCh38
NC_000016.9:g.3293293A>C , CM000678.1:g.3293293A>C	GRCh37
NC_000016.8:g.3233294A>C	NCBI36
NG_007871.1:g.18335T>G , LRG_190:g.18335T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1315T>G
ENST00000219596.6:c.2194T>G MANE Select	ENSP00000219596.1:p.Tyr732Asp
ENST00000219596.5:c.2194T>G	ENSP00000219596.1:p.Tyr732Asp
ENST00000339854.8:c.1654T>G	ENSP00000339639.4:p.Tyr552Asp
ENST00000536379.5:c.1561T>G	ENSP00000445079.1:p.Tyr521Asp
ENST00000536980.5:c.*470T>G	ENSP00000444178.1:n.*470T>G
ENST00000537682.5:c.*470T>G	ENSP00000438611.1:n.*470T>G
ENST00000538326.5:c.*819T>G	ENSP00000437486.1:n.*819T>G
ENST00000539145.5:c.1115T>G	ENSP00000444471.1:n.1115T>G
ENST00000541159.5:c.1736T>G	ENSP00000438711.1:n.1736T>G
ENST00000542898.5:c.*470T>G	ENSP00000444615.1:n.*470T>G
ENST00000570511.5:c.1599T>G	ENSP00000458312.1:n.1599T>G
ENST00000572244.5:c.884T>G	ENSP00000461186.1:n.884T>G
ENST00000574583.5:c.966T>G	ENSP00000460269.1:n.966T>G
ENST00000576315.5:c.999T>G	ENSP00000460551.1:n.999T>G
ENST00000621655.1:c.1731T>G	ENSP00000481436.1:n.1731T>G
NM_000243.2:c.2194T>G , LRG_190t1:c.2194T>G	NP_000234.1:p.Tyr732Asp
NM_001198536.1:c.*398T>G	NP_001185465.1:n.*398T>G
XM_017023236.2:c.2191T>G	XP_016878725.1:p.Tyr731Asp
NM_000243.3:c.2194T>G MANE Select	NP_000234.1:p.Tyr732Asp
NM_001198536.2:c.*398T>G	NP_001185465.2:n.*398T>G