Canonical Allele Identifier: CA394471328

Gene: MEFV

Linked Data

• dbSNP Id: rs1310589178
• gnomAD v2: 16-3299693-C-T
• gnomAD v4: 16-3249693-C-T
• MyVariant Identifiers: chr16:g.3299693C>T (hg19) ; chr16:g.3249693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249693C>T , CM000678.2:g.3249693C>T	GRCh38
NC_000016.9:g.3299693C>T , CM000678.1:g.3299693C>T	GRCh37
NC_000016.8:g.3239694C>T	NCBI36
NG_007871.1:g.11935G>A , LRG_190:g.11935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.998G>A MANE Select	ENSP00000219596.1:p.Ser333Asn
ENST00000219596.5:c.998G>A	ENSP00000219596.1:p.Ser333Asn
ENST00000339854.8:c.458G>A	ENSP00000339639.4:p.Ser153Asn
ENST00000536379.5:c.365G>A	ENSP00000445079.1:p.Ser122Asn
ENST00000536980.5:c.365G>A	ENSP00000444178.1:p.Ser122Asn
ENST00000537682.5:c.998G>A	ENSP00000438611.1:p.Ser333Asn
ENST00000538326.5:c.998G>A	ENSP00000437486.1:p.Ser333Asn
ENST00000539145.5:c.278-2447G>A	ENSP00000444471.1:n.278-2447G>A
ENST00000541159.5:c.365G>A	ENSP00000438711.1:p.Ser122Asn
ENST00000542898.5:c.1091G>A	ENSP00000444615.1:p.Ser364Asn
ENST00000570511.5:c.911-2447G>A	ENSP00000458312.1:n.911-2447G>A
ENST00000572244.5:c.278-3146G>A	ENSP00000461186.1:n.278-3146G>A
ENST00000574583.5:c.278-2447G>A	ENSP00000460269.1:n.278-2447G>A
ENST00000576315.5:c.278-2447G>A	ENSP00000460551.1:n.278-2447G>A
ENST00000621655.1:c.365G>A	ENSP00000481436.1:p.Ser122Asn
NM_000243.2:c.998G>A , LRG_190t1:c.998G>A	NP_000234.1:p.Ser333Asn
NM_001198536.1:c.365G>A	NP_001185465.1:p.Ser122Asn
XM_017023236.2:c.998G>A	XP_016878725.1:p.Ser333Asn
XR_001751903.1:n.1187G>A
NM_000243.3:c.998G>A MANE Select	NP_000234.1:p.Ser333Asn
NM_001198536.2:c.365G>A	NP_001185465.2:p.Ser122Asn