Canonical Allele Identifier: CA280633

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97535
• ClinVar RCV Id: RCV000083787 ; RCV000126743 ; RCV002262650 ; RCV003884348 ; RCV004529875
• dbSNP Id: rs104895162
• ExAC: 16:3304405 C / G
• gnomAD v2: 16-3304405-C-G
• gnomAD v3: 16-3254405-C-G
• gnomAD v4: 16-3254405-C-G
• MyVariant Identifiers: chr16:g.3304405C>G (hg19) ; chr16:g.3254405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254405C>G , CM000678.2:g.3254405C>G	GRCh38
NC_000016.9:g.3304405C>G , CM000678.1:g.3304405C>G	GRCh37
NC_000016.8:g.3244406C>G	NCBI36
NG_007871.1:g.7223G>C , LRG_190:g.7223G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.663G>C MANE Select	ENSP00000219596.1:p.Pro221=
ENST00000219596.5:c.663G>C	ENSP00000219596.1:p.Pro221=
ENST00000339854.8:c.277+1906G>C	ENSP00000339639.4:n.277+1906G>C
ENST00000536379.5:c.277+1906G>C	ENSP00000445079.1:n.277+1906G>C
ENST00000536980.5:c.277+1906G>C	ENSP00000444178.1:n.277+1906G>C
ENST00000537682.5:c.663G>C	ENSP00000438611.1:p.Pro221=
ENST00000538326.5:c.663G>C	ENSP00000437486.1:p.Pro221=
ENST00000539145.5:c.277+1906G>C	ENSP00000444471.1:n.277+1906G>C
ENST00000541159.5:c.277+1906G>C	ENSP00000438711.1:n.277+1906G>C
ENST00000542898.5:c.663G>C	ENSP00000444615.1:p.Pro221=
ENST00000570511.5:c.663G>C	ENSP00000458312.1:p.Pro221=
ENST00000572244.5:c.277+1906G>C	ENSP00000461186.1:n.277+1906G>C
ENST00000574583.5:c.277+1906G>C	ENSP00000460269.1:n.277+1906G>C
ENST00000576315.5:c.277+1906G>C	ENSP00000460551.1:n.277+1906G>C
ENST00000621655.1:c.277+1906G>C	ENSP00000481436.1:n.277+1906G>C
NM_000243.2:c.663G>C , LRG_190t1:c.663G>C	NP_000234.1:p.Pro221=
NM_001198536.1:c.277+1906G>C	NP_001185465.1:n.277+1906G>C
XM_017023236.2:c.663G>C	XP_016878725.1:p.Pro221=
XR_001751903.1:n.852G>C
NM_000243.3:c.663G>C MANE Select	NP_000234.1:p.Pro221=
NM_001198536.2:c.277+1906G>C	NP_001185465.2:n.277+1906G>C