Canonical Allele Identifier: CA493384197

Gene: MEFV

Linked Data

• ClinVar Variation Id: 2955530
• ClinVar RCV Id: RCV003810681
• dbSNP Id: rs1204728272
• gnomAD v3: 16-3254372-G-A
• gnomAD v4: 16-3254372-G-A
• MyVariant Identifiers: chr16:g.3304372G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254372G>A , CM000678.2:g.3254372G>A	GRCh38
NC_000016.9:g.3304372G>A , CM000678.1:g.3304372G>A	GRCh37
NC_000016.8:g.3244373G>A	NCBI36
NG_007871.1:g.7256C>T , LRG_190:g.7256C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.696C>T MANE Select	ENSP00000219596.1:p.Tyr232=
ENST00000219596.5:c.696C>T	ENSP00000219596.1:p.Tyr232=
ENST00000339854.8:c.277+1939C>T	ENSP00000339639.4:n.277+1939C>T
ENST00000536379.5:c.277+1939C>T	ENSP00000445079.1:n.277+1939C>T
ENST00000536980.5:c.277+1939C>T	ENSP00000444178.1:n.277+1939C>T
ENST00000537682.5:c.696C>T	ENSP00000438611.1:p.Tyr232=
ENST00000538326.5:c.696C>T	ENSP00000437486.1:p.Tyr232=
ENST00000539145.5:c.277+1939C>T	ENSP00000444471.1:n.277+1939C>T
ENST00000541159.5:c.277+1939C>T	ENSP00000438711.1:n.277+1939C>T
ENST00000542898.5:c.696C>T	ENSP00000444615.1:p.Tyr232=
ENST00000570511.5:c.696C>T	ENSP00000458312.1:p.Tyr232=
ENST00000572244.5:c.277+1939C>T	ENSP00000461186.1:n.277+1939C>T
ENST00000574583.5:c.277+1939C>T	ENSP00000460269.1:n.277+1939C>T
ENST00000576315.5:c.277+1939C>T	ENSP00000460551.1:n.277+1939C>T
ENST00000621655.1:c.277+1939C>T	ENSP00000481436.1:n.277+1939C>T
NM_000243.2:c.696C>T , LRG_190t1:c.696C>T	NP_000234.1:p.Tyr232=
NM_001198536.1:c.277+1939C>T	NP_001185465.1:n.277+1939C>T
XM_017023236.2:c.696C>T	XP_016878725.1:p.Tyr232=
XR_001751903.1:n.885C>T
NM_000243.3:c.696C>T MANE Select	NP_000234.1:p.Tyr232=
NM_001198536.2:c.277+1939C>T	NP_001185465.2:n.277+1939C>T