Canonical Allele Identifier: CA394484560

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293192C>G (hg19) ; chr16:g.3243192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243192C>G , CM000678.2:g.3243192C>G	GRCh38
NC_000016.9:g.3293192C>G , CM000678.1:g.3293192C>G	GRCh37
NC_000016.8:g.3233193C>G	NCBI36
NG_007871.1:g.18436G>C , LRG_190:g.18436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1416G>C
ENST00000219596.6:c.2295G>C MANE Select	ENSP00000219596.1:p.Lys765Asn
ENST00000219596.5:c.2295G>C	ENSP00000219596.1:p.Lys765Asn
ENST00000339854.8:c.1755G>C	ENSP00000339639.4:p.Lys585Asn
ENST00000536379.5:c.1662G>C	ENSP00000445079.1:p.Lys554Asn
ENST00000536980.5:c.*571G>C	ENSP00000444178.1:n.*571G>C
ENST00000537682.5:c.*571G>C	ENSP00000438611.1:n.*571G>C
ENST00000538326.5:c.*920G>C	ENSP00000437486.1:n.*920G>C
ENST00000539145.5:c.1216G>C	ENSP00000444471.1:n.1216G>C
ENST00000541159.5:c.1837G>C	ENSP00000438711.1:n.1837G>C
ENST00000542898.5:c.*571G>C	ENSP00000444615.1:n.*571G>C
ENST00000570511.5:c.1700G>C	ENSP00000458312.1:n.1700G>C
ENST00000572244.5:c.985G>C	ENSP00000461186.1:n.985G>C
ENST00000574583.5:c.1067G>C	ENSP00000460269.1:n.1067G>C
ENST00000576315.5:c.1100G>C	ENSP00000460551.1:n.1100G>C
ENST00000621655.1:c.1832G>C	ENSP00000481436.1:n.1832G>C
NM_000243.2:c.2295G>C , LRG_190t1:c.2295G>C	NP_000234.1:p.Lys765Asn
NM_001198536.1:c.*499G>C	NP_001185465.1:n.*499G>C
XM_017023236.2:c.2292G>C	XP_016878725.1:p.Lys764Asn
NM_000243.3:c.2295G>C MANE Select	NP_000234.1:p.Lys765Asn
NM_001198536.2:c.*499G>C	NP_001185465.2:n.*499G>C