Canonical Allele Identifier: CA394487586

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243553-G-A
• MyVariant Identifiers: chr16:g.3293553G>A (hg19) ; chr16:g.3243553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243553G>A , CM000678.2:g.3243553G>A	GRCh38
NC_000016.9:g.3293553G>A , CM000678.1:g.3293553G>A	GRCh37
NC_000016.8:g.3233554G>A	NCBI36
NG_007871.1:g.18075C>T , LRG_190:g.18075C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1055C>T
ENST00000219596.6:c.1934C>T MANE Select	ENSP00000219596.1:p.Ser645Phe
ENST00000219596.5:c.1934C>T	ENSP00000219596.1:p.Ser645Phe
ENST00000339854.8:c.1394C>T	ENSP00000339639.4:p.Ser465Phe
ENST00000536379.5:c.1301C>T	ENSP00000445079.1:p.Ser434Phe
ENST00000536980.5:c.*210C>T	ENSP00000444178.1:n.*210C>T
ENST00000537682.5:c.*210C>T	ENSP00000438611.1:n.*210C>T
ENST00000538326.5:c.*559C>T	ENSP00000437486.1:n.*559C>T
ENST00000539145.5:c.855C>T	ENSP00000444471.1:n.855C>T
ENST00000541159.5:c.1476C>T	ENSP00000438711.1:n.1476C>T
ENST00000542898.5:c.*210C>T	ENSP00000444615.1:n.*210C>T
ENST00000570511.5:c.1339C>T	ENSP00000458312.1:n.1339C>T
ENST00000572244.5:c.624C>T	ENSP00000461186.1:n.624C>T
ENST00000574583.5:c.706C>T	ENSP00000460269.1:n.706C>T
ENST00000576315.5:c.739C>T	ENSP00000460551.1:n.739C>T
ENST00000621655.1:c.1471C>T	ENSP00000481436.1:n.1471C>T
NM_000243.2:c.1934C>T , LRG_190t1:c.1934C>T	NP_000234.1:p.Ser645Phe
NM_001198536.1:c.*138C>T	NP_001185465.1:n.*138C>T
XM_017023236.2:c.1931C>T	XP_016878725.1:p.Ser644Phe
NM_000243.3:c.1934C>T MANE Select	NP_000234.1:p.Ser645Phe
NM_001198536.2:c.*138C>T	NP_001185465.2:n.*138C>T