Canonical Allele Identifier: CA394484381

Gene: MEFV

Linked Data

• dbSNP Id: rs1567231231
• gnomAD v4: 16-3243170-A-C
• MyVariant Identifiers: chr16:g.3293170A>C (hg19) ; chr16:g.3243170A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243170A>C , CM000678.2:g.3243170A>C	GRCh38
NC_000016.9:g.3293170A>C , CM000678.1:g.3293170A>C	GRCh37
NC_000016.8:g.3233171A>C	NCBI36
NG_007871.1:g.18458T>G , LRG_190:g.18458T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1438T>G
ENST00000219596.6:c.2317T>G MANE Select	ENSP00000219596.1:p.Cys773Gly
ENST00000219596.5:c.2317T>G	ENSP00000219596.1:p.Cys773Gly
ENST00000339854.8:c.1777T>G	ENSP00000339639.4:p.Cys593Gly
ENST00000536379.5:c.1684T>G	ENSP00000445079.1:p.Cys562Gly
ENST00000536980.5:c.*593T>G	ENSP00000444178.1:n.*593T>G
ENST00000537682.5:c.*593T>G	ENSP00000438611.1:n.*593T>G
ENST00000538326.5:c.*942T>G	ENSP00000437486.1:n.*942T>G
ENST00000539145.5:c.1238T>G	ENSP00000444471.1:n.1238T>G
ENST00000541159.5:c.1859T>G	ENSP00000438711.1:n.1859T>G
ENST00000542898.5:c.*593T>G	ENSP00000444615.1:n.*593T>G
ENST00000570511.5:c.1722T>G	ENSP00000458312.1:n.1722T>G
ENST00000572244.5:c.1007T>G	ENSP00000461186.1:n.1007T>G
ENST00000574583.5:c.1089T>G	ENSP00000460269.1:n.1089T>G
ENST00000576315.5:c.1122T>G	ENSP00000460551.1:n.1122T>G
ENST00000621655.1:c.1854T>G	ENSP00000481436.1:n.1854T>G
NM_000243.2:c.2317T>G , LRG_190t1:c.2317T>G	NP_000234.1:p.Cys773Gly
NM_001198536.1:c.*521T>G	NP_001185465.1:n.*521T>G
XM_017023236.2:c.2314T>G	XP_016878725.1:p.Cys772Gly
NM_000243.3:c.2317T>G MANE Select	NP_000234.1:p.Cys773Gly
NM_001198536.2:c.*521T>G	NP_001185465.2:n.*521T>G