Canonical Allele Identifier: CA493257491

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293156A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243156A>G , CM000678.2:g.3243156A>G	GRCh38
NC_000016.9:g.3293156A>G , CM000678.1:g.3293156A>G	GRCh37
NC_000016.8:g.3233157A>G	NCBI36
NG_007871.1:g.18472T>C , LRG_190:g.18472T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1452T>C
ENST00000219596.6:c.2331T>C MANE Select	ENSP00000219596.1:p.Gly777=
ENST00000219596.5:c.2331T>C	ENSP00000219596.1:p.Gly777=
ENST00000339854.8:c.1791T>C	ENSP00000339639.4:p.Gly597=
ENST00000536379.5:c.1698T>C	ENSP00000445079.1:p.Gly566=
ENST00000536980.5:c.*607T>C	ENSP00000444178.1:n.*607T>C
ENST00000537682.5:c.*607T>C	ENSP00000438611.1:n.*607T>C
ENST00000538326.5:c.*956T>C	ENSP00000437486.1:n.*956T>C
ENST00000539145.5:c.1252T>C	ENSP00000444471.1:n.1252T>C
ENST00000541159.5:c.1873T>C	ENSP00000438711.1:n.1873T>C
ENST00000542898.5:c.*607T>C	ENSP00000444615.1:n.*607T>C
ENST00000570511.5:c.1736T>C	ENSP00000458312.1:n.1736T>C
ENST00000572244.5:c.1021T>C	ENSP00000461186.1:n.1021T>C
ENST00000574583.5:c.1103T>C	ENSP00000460269.1:n.1103T>C
ENST00000576315.5:c.1136T>C	ENSP00000460551.1:n.1136T>C
ENST00000621655.1:c.1868T>C	ENSP00000481436.1:n.1868T>C
NM_000243.2:c.2331T>C , LRG_190t1:c.2331T>C	NP_000234.1:p.Gly777=
NM_001198536.1:c.*535T>C	NP_001185465.1:n.*535T>C
XM_017023236.2:c.2328T>C	XP_016878725.1:p.Gly776=
NM_000243.3:c.2331T>C MANE Select	NP_000234.1:p.Gly777=
NM_001198536.2:c.*535T>C	NP_001185465.2:n.*535T>C