Canonical Allele Identifier: CA394484268

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293157C>G (hg19) ; chr16:g.3243157C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243157C>G , CM000678.2:g.3243157C>G	GRCh38
NC_000016.9:g.3293157C>G , CM000678.1:g.3293157C>G	GRCh37
NC_000016.8:g.3233158C>G	NCBI36
NG_007871.1:g.18471G>C , LRG_190:g.18471G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1451G>C
ENST00000219596.6:c.2330G>C MANE Select	ENSP00000219596.1:p.Gly777Ala
ENST00000219596.5:c.2330G>C	ENSP00000219596.1:p.Gly777Ala
ENST00000339854.8:c.1790G>C	ENSP00000339639.4:p.Gly597Ala
ENST00000536379.5:c.1697G>C	ENSP00000445079.1:p.Gly566Ala
ENST00000536980.5:c.*606G>C	ENSP00000444178.1:n.*606G>C
ENST00000537682.5:c.*606G>C	ENSP00000438611.1:n.*606G>C
ENST00000538326.5:c.*955G>C	ENSP00000437486.1:n.*955G>C
ENST00000539145.5:c.1251G>C	ENSP00000444471.1:n.1251G>C
ENST00000541159.5:c.1872G>C	ENSP00000438711.1:n.1872G>C
ENST00000542898.5:c.*606G>C	ENSP00000444615.1:n.*606G>C
ENST00000570511.5:c.1735G>C	ENSP00000458312.1:n.1735G>C
ENST00000572244.5:c.1020G>C	ENSP00000461186.1:n.1020G>C
ENST00000574583.5:c.1102G>C	ENSP00000460269.1:n.1102G>C
ENST00000576315.5:c.1135G>C	ENSP00000460551.1:n.1135G>C
ENST00000621655.1:c.1867G>C	ENSP00000481436.1:n.1867G>C
NM_000243.2:c.2330G>C , LRG_190t1:c.2330G>C	NP_000234.1:p.Gly777Ala
NM_001198536.1:c.*534G>C	NP_001185465.1:n.*534G>C
XM_017023236.2:c.2327G>C	XP_016878725.1:p.Gly776Ala
NM_000243.3:c.2330G>C MANE Select	NP_000234.1:p.Gly777Ala
NM_001198536.2:c.*534G>C	NP_001185465.2:n.*534G>C