Canonical Allele Identifier: CA394487477

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293536C>T (hg19) ; chr16:g.3243536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243536C>T , CM000678.2:g.3243536C>T	GRCh38
NC_000016.9:g.3293536C>T , CM000678.1:g.3293536C>T	GRCh37
NC_000016.8:g.3233537C>T	NCBI36
NG_007871.1:g.18092G>A , LRG_190:g.18092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1072G>A
ENST00000219596.6:c.1951G>A MANE Select	ENSP00000219596.1:p.Gly651Ser
ENST00000219596.5:c.1951G>A	ENSP00000219596.1:p.Gly651Ser
ENST00000339854.8:c.1411G>A	ENSP00000339639.4:p.Gly471Ser
ENST00000536379.5:c.1318G>A	ENSP00000445079.1:p.Gly440Ser
ENST00000536980.5:c.*227G>A	ENSP00000444178.1:n.*227G>A
ENST00000537682.5:c.*227G>A	ENSP00000438611.1:n.*227G>A
ENST00000538326.5:c.*576G>A	ENSP00000437486.1:n.*576G>A
ENST00000539145.5:c.872G>A	ENSP00000444471.1:n.872G>A
ENST00000541159.5:c.1493G>A	ENSP00000438711.1:n.1493G>A
ENST00000542898.5:c.*227G>A	ENSP00000444615.1:n.*227G>A
ENST00000570511.5:c.1356G>A	ENSP00000458312.1:n.1356G>A
ENST00000572244.5:c.641G>A	ENSP00000461186.1:n.641G>A
ENST00000574583.5:c.723G>A	ENSP00000460269.1:n.723G>A
ENST00000576315.5:c.756G>A	ENSP00000460551.1:n.756G>A
ENST00000621655.1:c.1488G>A	ENSP00000481436.1:n.1488G>A
NM_000243.2:c.1951G>A , LRG_190t1:c.1951G>A	NP_000234.1:p.Gly651Ser
NM_001198536.1:c.*155G>A	NP_001185465.1:n.*155G>A
XM_017023236.2:c.1948G>A	XP_016878725.1:p.Gly650Ser
NM_000243.3:c.1951G>A MANE Select	NP_000234.1:p.Gly651Ser
NM_001198536.2:c.*155G>A	NP_001185465.2:n.*155G>A