Canonical Allele Identifier: CA394485380

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293294A>T (hg19) ; chr16:g.3243294A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243294A>T , CM000678.2:g.3243294A>T	GRCh38
NC_000016.9:g.3293294A>T , CM000678.1:g.3293294A>T	GRCh37
NC_000016.8:g.3233295A>T	NCBI36
NG_007871.1:g.18334T>A , LRG_190:g.18334T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1314T>A
ENST00000219596.6:c.2193T>A MANE Select	ENSP00000219596.1:p.Phe731Leu
ENST00000219596.5:c.2193T>A	ENSP00000219596.1:p.Phe731Leu
ENST00000339854.8:c.1653T>A	ENSP00000339639.4:p.Phe551Leu
ENST00000536379.5:c.1560T>A	ENSP00000445079.1:p.Phe520Leu
ENST00000536980.5:c.*469T>A	ENSP00000444178.1:n.*469T>A
ENST00000537682.5:c.*469T>A	ENSP00000438611.1:n.*469T>A
ENST00000538326.5:c.*818T>A	ENSP00000437486.1:n.*818T>A
ENST00000539145.5:c.1114T>A	ENSP00000444471.1:n.1114T>A
ENST00000541159.5:c.1735T>A	ENSP00000438711.1:n.1735T>A
ENST00000542898.5:c.*469T>A	ENSP00000444615.1:n.*469T>A
ENST00000570511.5:c.1598T>A	ENSP00000458312.1:n.1598T>A
ENST00000572244.5:c.883T>A	ENSP00000461186.1:n.883T>A
ENST00000574583.5:c.965T>A	ENSP00000460269.1:n.965T>A
ENST00000576315.5:c.998T>A	ENSP00000460551.1:n.998T>A
ENST00000621655.1:c.1730T>A	ENSP00000481436.1:n.1730T>A
NM_000243.2:c.2193T>A , LRG_190t1:c.2193T>A	NP_000234.1:p.Phe731Leu
NM_001198536.1:c.*397T>A	NP_001185465.1:n.*397T>A
XM_017023236.2:c.2190T>A	XP_016878725.1:p.Phe730Leu
NM_000243.3:c.2193T>A MANE Select	NP_000234.1:p.Phe731Leu
NM_001198536.2:c.*397T>A	NP_001185465.2:n.*397T>A