Canonical Allele Identifier: CA493208749

Gene: MEFV

Linked Data

• dbSNP Id: rs1958910946
• COSMIC: COSM6079278 ; COSM6079279
• MyVariant Identifiers: chr16:g.3294567A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244567A>G , CM000678.2:g.3244567A>G	GRCh38
NC_000016.9:g.3294567A>G , CM000678.1:g.3294567A>G	GRCh37
NC_000016.8:g.3234568A>G	NCBI36
NG_007871.1:g.17061T>C , LRG_190:g.17061T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.753T>C
ENST00000219596.6:c.1632T>C MANE Select	ENSP00000219596.1:p.Pro544=
ENST00000219596.5:c.1632T>C	ENSP00000219596.1:p.Pro544=
ENST00000339854.8:c.1092T>C	ENSP00000339639.4:p.Pro364=
ENST00000536379.5:c.999T>C	ENSP00000445079.1:p.Pro333=
ENST00000536980.5:c.999T>C	ENSP00000444178.1:p.Pro333=
ENST00000537682.5:c.1632T>C	ENSP00000438611.1:p.Pro544=
ENST00000538326.5:c.*257T>C	ENSP00000437486.1:n.*257T>C
ENST00000539145.5:c.553T>C	ENSP00000444471.1:n.553T>C
ENST00000541159.5:c.999T>C	ENSP00000438711.1:p.Pro333=
ENST00000542898.5:c.1725T>C	ENSP00000444615.1:p.Pro575=
ENST00000570511.5:c.1165-675T>C	ENSP00000458312.1:n.1165-675T>C
ENST00000572244.5:c.322T>C	ENSP00000461186.1:n.322T>C
ENST00000574583.5:c.532-675T>C	ENSP00000460269.1:n.532-675T>C
ENST00000576315.5:c.532-281T>C	ENSP00000460551.1:n.532-281T>C
ENST00000621655.1:c.999T>C	ENSP00000481436.1:p.Pro333=
NM_000243.2:c.1632T>C , LRG_190t1:c.1632T>C	NP_000234.1:p.Pro544=
NM_001198536.1:c.999T>C	NP_001185465.1:p.Pro333=
XM_017023236.2:c.1629T>C	XP_016878725.1:p.Pro543=
XR_001751903.1:n.1821T>C
NM_000243.3:c.1632T>C MANE Select	NP_000234.1:p.Pro544=
NM_001198536.2:c.999T>C	NP_001185465.2:p.Pro333=