Canonical Allele Identifier: CA394459039

Gene: MEFV

Linked Data

• ClinVar Variation Id: 918000
• ClinVar RCV Id: RCV001175245
• dbSNP Id: rs1958911016
• MyVariant Identifiers: chr16:g.3294572C>G (hg19) ; chr16:g.3244572C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244572C>G , CM000678.2:g.3244572C>G	GRCh38
NC_000016.9:g.3294572C>G , CM000678.1:g.3294572C>G	GRCh37
NC_000016.8:g.3234573C>G	NCBI36
NG_007871.1:g.17056G>C , LRG_190:g.17056G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.748G>C
ENST00000219596.6:c.1627G>C MANE Select	ENSP00000219596.1:p.Val543Leu
ENST00000219596.5:c.1627G>C	ENSP00000219596.1:p.Val543Leu
ENST00000339854.8:c.1087G>C	ENSP00000339639.4:p.Val363Leu
ENST00000536379.5:c.994G>C	ENSP00000445079.1:p.Val332Leu
ENST00000536980.5:c.994G>C	ENSP00000444178.1:p.Val332Leu
ENST00000537682.5:c.1627G>C	ENSP00000438611.1:p.Val543Leu
ENST00000538326.5:c.*252G>C	ENSP00000437486.1:n.*252G>C
ENST00000539145.5:c.548G>C	ENSP00000444471.1:n.548G>C
ENST00000541159.5:c.994G>C	ENSP00000438711.1:p.Val332Leu
ENST00000542898.5:c.1720G>C	ENSP00000444615.1:p.Val574Leu
ENST00000570511.5:c.1165-680G>C	ENSP00000458312.1:n.1165-680G>C
ENST00000572244.5:c.317G>C	ENSP00000461186.1:n.317G>C
ENST00000574583.5:c.532-680G>C	ENSP00000460269.1:n.532-680G>C
ENST00000576315.5:c.532-286G>C	ENSP00000460551.1:n.532-286G>C
ENST00000621655.1:c.994G>C	ENSP00000481436.1:p.Val332Leu
NM_000243.2:c.1627G>C , LRG_190t1:c.1627G>C	NP_000234.1:p.Val543Leu
NM_001198536.1:c.994G>C	NP_001185465.1:p.Val332Leu
XM_017023236.2:c.1624G>C	XP_016878725.1:p.Val542Leu
XR_001751903.1:n.1816G>C
NM_000243.3:c.1627G>C MANE Select	NP_000234.1:p.Val543Leu
NM_001198536.2:c.994G>C	NP_001185465.2:p.Val332Leu