Canonical Allele Identifier: CA276955587

Gene: MEFV

Linked Data

• dbSNP Id: rs568395935
• gnomAD v2: 16-3293975-A-G
• gnomAD v3: 16-3243975-A-G
• gnomAD v4: 16-3243975-A-G
• MyVariant Identifiers: chr16:g.3293975A>G (hg19) ; chr16:g.3243975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243975A>G , CM000678.2:g.3243975A>G	GRCh38
NC_000016.9:g.3293975A>G , CM000678.1:g.3293975A>G	GRCh37
NC_000016.8:g.3233976A>G	NCBI36
NG_007871.1:g.17653T>C , LRG_190:g.17653T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.881-83T>C
ENST00000219596.6:c.1760-83T>C MANE Select	ENSP00000219596.1:n.1760-83T>C
ENST00000219596.5:c.1760-83T>C	ENSP00000219596.1:n.1760-83T>C
ENST00000339854.8:c.1220-83T>C	ENSP00000339639.4:n.1220-83T>C
ENST00000536379.5:c.1127-83T>C	ENSP00000445079.1:n.1127-83T>C
ENST00000536980.5:c.*36-83T>C	ENSP00000444178.1:n.*36-83T>C
ENST00000537682.5:c.*36-83T>C	ENSP00000438611.1:n.*36-83T>C
ENST00000538326.5:c.*385-83T>C	ENSP00000437486.1:n.*385-83T>C
ENST00000539145.5:c.681-83T>C	ENSP00000444471.1:n.681-83T>C
ENST00000541159.5:c.1219T>C	ENSP00000438711.1:p.Ser407Pro
ENST00000542898.5:c.*36-83T>C	ENSP00000444615.1:n.*36-83T>C
ENST00000570511.5:c.1165-83T>C	ENSP00000458312.1:n.1165-83T>C
ENST00000572244.5:c.450-83T>C	ENSP00000461186.1:n.450-83T>C
ENST00000574583.5:c.532-83T>C	ENSP00000460269.1:n.532-83T>C
ENST00000576315.5:c.565-83T>C	ENSP00000460551.1:n.565-83T>C
ENST00000621655.1:c.1218+1T>C	ENSP00000481436.1:n.1218+1T>C
NM_000243.2:c.1760-83T>C , LRG_190t1:c.1760-83T>C	NP_000234.1:n.1760-83T>C
NM_001198536.1:c.1219T>C	NP_001185465.1:p.Ser407Pro
XM_017023236.2:c.1757-83T>C	XP_016878725.1:n.1757-83T>C
XR_001751903.1:n.2067-83T>C
NM_000243.3:c.1760-83T>C MANE Select	NP_000234.1:n.1760-83T>C
NM_001198536.2:c.1219T>C	NP_001185465.2:p.Ser407Pro