Canonical Allele Identifier: CA394484527

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293187G>T (hg19) ; chr16:g.3243187G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243187G>T , CM000678.2:g.3243187G>T	GRCh38
NC_000016.9:g.3293187G>T , CM000678.1:g.3293187G>T	GRCh37
NC_000016.8:g.3233188G>T	NCBI36
NG_007871.1:g.18441C>A , LRG_190:g.18441C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1421C>A
ENST00000219596.6:c.2300C>A MANE Select	ENSP00000219596.1:p.Thr767Lys
ENST00000219596.5:c.2300C>A	ENSP00000219596.1:p.Thr767Lys
ENST00000339854.8:c.1760C>A	ENSP00000339639.4:p.Thr587Lys
ENST00000536379.5:c.1667C>A	ENSP00000445079.1:p.Thr556Lys
ENST00000536980.5:c.*576C>A	ENSP00000444178.1:n.*576C>A
ENST00000537682.5:c.*576C>A	ENSP00000438611.1:n.*576C>A
ENST00000538326.5:c.*925C>A	ENSP00000437486.1:n.*925C>A
ENST00000539145.5:c.1221C>A	ENSP00000444471.1:n.1221C>A
ENST00000541159.5:c.1842C>A	ENSP00000438711.1:n.1842C>A
ENST00000542898.5:c.*576C>A	ENSP00000444615.1:n.*576C>A
ENST00000570511.5:c.1705C>A	ENSP00000458312.1:n.1705C>A
ENST00000572244.5:c.990C>A	ENSP00000461186.1:n.990C>A
ENST00000574583.5:c.1072C>A	ENSP00000460269.1:n.1072C>A
ENST00000576315.5:c.1105C>A	ENSP00000460551.1:n.1105C>A
ENST00000621655.1:c.1837C>A	ENSP00000481436.1:n.1837C>A
NM_000243.2:c.2300C>A , LRG_190t1:c.2300C>A	NP_000234.1:p.Thr767Lys
NM_001198536.1:c.*504C>A	NP_001185465.1:n.*504C>A
XM_017023236.2:c.2297C>A	XP_016878725.1:p.Thr766Lys
NM_000243.3:c.2300C>A MANE Select	NP_000234.1:p.Thr767Lys
NM_001198536.2:c.*504C>A	NP_001185465.2:n.*504C>A