Canonical Allele Identifier: CA7859865

Gene: MEFV

Linked Data

• dbSNP Id: rs763886984
• ExAC: 16:3293335 C / T
• gnomAD v2: 16-3293335-C-T
• gnomAD v4: 16-3243335-C-T
• MyVariant Identifiers: chr16:g.3293335C>T (hg19) ; chr16:g.3243335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243335C>T , CM000678.2:g.3243335C>T	GRCh38
NC_000016.9:g.3293335C>T , CM000678.1:g.3293335C>T	GRCh37
NC_000016.8:g.3233336C>T	NCBI36
NG_007871.1:g.18293G>A , LRG_190:g.18293G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1273G>A
ENST00000219596.6:c.2152G>A MANE Select	ENSP00000219596.1:p.Val718Met
ENST00000219596.5:c.2152G>A	ENSP00000219596.1:p.Val718Met
ENST00000339854.8:c.1612G>A	ENSP00000339639.4:p.Val538Met
ENST00000536379.5:c.1519G>A	ENSP00000445079.1:p.Val507Met
ENST00000536980.5:c.*428G>A	ENSP00000444178.1:n.*428G>A
ENST00000537682.5:c.*428G>A	ENSP00000438611.1:n.*428G>A
ENST00000538326.5:c.*777G>A	ENSP00000437486.1:n.*777G>A
ENST00000539145.5:c.1073G>A	ENSP00000444471.1:n.1073G>A
ENST00000541159.5:c.1694G>A	ENSP00000438711.1:n.1694G>A
ENST00000542898.5:c.*428G>A	ENSP00000444615.1:n.*428G>A
ENST00000570511.5:c.1557G>A	ENSP00000458312.1:n.1557G>A
ENST00000572244.5:c.842G>A	ENSP00000461186.1:n.842G>A
ENST00000574583.5:c.924G>A	ENSP00000460269.1:n.924G>A
ENST00000576315.5:c.957G>A	ENSP00000460551.1:n.957G>A
ENST00000621655.1:c.1689G>A	ENSP00000481436.1:n.1689G>A
NM_000243.2:c.2152G>A , LRG_190t1:c.2152G>A	NP_000234.1:p.Val718Met
NM_001198536.1:c.*356G>A	NP_001185465.1:n.*356G>A
XM_017023236.2:c.2149G>A	XP_016878725.1:p.Val717Met
NM_000243.3:c.2152G>A MANE Select	NP_000234.1:p.Val718Met
NM_001198536.2:c.*356G>A	NP_001185465.2:n.*356G>A