Canonical Allele Identifier: CA276954947

Gene: MEFV

Linked Data

• dbSNP Id: rs952333535
• MyVariant Identifiers: chr16:g.3293164C>A (hg19) ; chr16:g.3243164C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243164C>A , CM000678.2:g.3243164C>A	GRCh38
NC_000016.9:g.3293164C>A , CM000678.1:g.3293164C>A	GRCh37
NC_000016.8:g.3233165C>A	NCBI36
NG_007871.1:g.18464G>T , LRG_190:g.18464G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1444G>T
ENST00000219596.6:c.2323G>T MANE Select	ENSP00000219596.1:p.Val775Leu
ENST00000219596.5:c.2323G>T	ENSP00000219596.1:p.Val775Leu
ENST00000339854.8:c.1783G>T	ENSP00000339639.4:p.Val595Leu
ENST00000536379.5:c.1690G>T	ENSP00000445079.1:p.Val564Leu
ENST00000536980.5:c.*599G>T	ENSP00000444178.1:n.*599G>T
ENST00000537682.5:c.*599G>T	ENSP00000438611.1:n.*599G>T
ENST00000538326.5:c.*948G>T	ENSP00000437486.1:n.*948G>T
ENST00000539145.5:c.1244G>T	ENSP00000444471.1:n.1244G>T
ENST00000541159.5:c.1865G>T	ENSP00000438711.1:n.1865G>T
ENST00000542898.5:c.*599G>T	ENSP00000444615.1:n.*599G>T
ENST00000570511.5:c.1728G>T	ENSP00000458312.1:n.1728G>T
ENST00000572244.5:c.1013G>T	ENSP00000461186.1:n.1013G>T
ENST00000574583.5:c.1095G>T	ENSP00000460269.1:n.1095G>T
ENST00000576315.5:c.1128G>T	ENSP00000460551.1:n.1128G>T
ENST00000621655.1:c.1860G>T	ENSP00000481436.1:n.1860G>T
NM_000243.2:c.2323G>T , LRG_190t1:c.2323G>T	NP_000234.1:p.Val775Leu
NM_001198536.1:c.*527G>T	NP_001185465.1:n.*527G>T
XM_017023236.2:c.2320G>T	XP_016878725.1:p.Val774Leu
NM_000243.3:c.2323G>T MANE Select	NP_000234.1:p.Val775Leu
NM_001198536.2:c.*527G>T	NP_001185465.2:n.*527G>T