Canonical Allele Identifier: CA7860045

Gene: MEFV

Linked Data

• dbSNP Id: rs770613291
• ExAC: 16:3294582 C / G
• gnomAD v2: 16-3294582-C-G
• gnomAD v4: 16-3244582-C-G
• MyVariant Identifiers: chr16:g.3294582C>G (hg19) ; chr16:g.3244582C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244582C>G , CM000678.2:g.3244582C>G	GRCh38
NC_000016.9:g.3294582C>G , CM000678.1:g.3294582C>G	GRCh37
NC_000016.8:g.3234583C>G	NCBI36
NG_007871.1:g.17046G>C , LRG_190:g.17046G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.738G>C
ENST00000219596.6:c.1617G>C MANE Select	ENSP00000219596.1:p.Lys539Asn
ENST00000219596.5:c.1617G>C	ENSP00000219596.1:p.Lys539Asn
ENST00000339854.8:c.1077G>C	ENSP00000339639.4:p.Lys359Asn
ENST00000536379.5:c.984G>C	ENSP00000445079.1:p.Lys328Asn
ENST00000536980.5:c.984G>C	ENSP00000444178.1:p.Lys328Asn
ENST00000537682.5:c.1617G>C	ENSP00000438611.1:p.Lys539Asn
ENST00000538326.5:c.*242G>C	ENSP00000437486.1:n.*242G>C
ENST00000539145.5:c.538G>C	ENSP00000444471.1:n.538G>C
ENST00000541159.5:c.984G>C	ENSP00000438711.1:p.Lys328Asn
ENST00000542898.5:c.1710G>C	ENSP00000444615.1:p.Lys570Asn
ENST00000570511.5:c.1165-690G>C	ENSP00000458312.1:n.1165-690G>C
ENST00000572244.5:c.307G>C	ENSP00000461186.1:n.307G>C
ENST00000574583.5:c.532-690G>C	ENSP00000460269.1:n.532-690G>C
ENST00000576315.5:c.532-296G>C	ENSP00000460551.1:n.532-296G>C
ENST00000621655.1:c.984G>C	ENSP00000481436.1:p.Lys328Asn
NM_000243.2:c.1617G>C , LRG_190t1:c.1617G>C	NP_000234.1:p.Lys539Asn
NM_001198536.1:c.984G>C	NP_001185465.1:p.Lys328Asn
XM_017023236.2:c.1614G>C	XP_016878725.1:p.Lys538Asn
XR_001751903.1:n.1806G>C
NM_000243.3:c.1617G>C MANE Select	NP_000234.1:p.Lys539Asn
NM_001198536.2:c.984G>C	NP_001185465.2:p.Lys328Asn