Canonical Allele Identifier: CA394457816

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3294483C>A (hg19) ; chr16:g.3244483C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244483C>A , CM000678.2:g.3244483C>A	GRCh38
NC_000016.9:g.3294483C>A , CM000678.1:g.3294483C>A	GRCh37
NC_000016.8:g.3234484C>A	NCBI36
NG_007871.1:g.17145G>T , LRG_190:g.17145G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.837G>T
ENST00000219596.6:c.1716G>T MANE Select	ENSP00000219596.1:p.Lys572Asn
ENST00000219596.5:c.1716G>T	ENSP00000219596.1:p.Lys572Asn
ENST00000339854.8:c.1176G>T	ENSP00000339639.4:p.Lys392Asn
ENST00000536379.5:c.1083G>T	ENSP00000445079.1:p.Lys361Asn
ENST00000536980.5:c.1083G>T	ENSP00000444178.1:p.Lys361Asn
ENST00000537682.5:c.1716G>T	ENSP00000438611.1:p.Lys572Asn
ENST00000538326.5:c.*341G>T	ENSP00000437486.1:n.*341G>T
ENST00000539145.5:c.637G>T	ENSP00000444471.1:n.637G>T
ENST00000541159.5:c.1083G>T	ENSP00000438711.1:p.Lys361Asn
ENST00000542898.5:c.1809G>T	ENSP00000444615.1:p.Lys603Asn
ENST00000570511.5:c.1165-591G>T	ENSP00000458312.1:n.1165-591G>T
ENST00000572244.5:c.406G>T	ENSP00000461186.1:n.406G>T
ENST00000574583.5:c.532-591G>T	ENSP00000460269.1:n.532-591G>T
ENST00000576315.5:c.532-197G>T	ENSP00000460551.1:n.532-197G>T
ENST00000621655.1:c.1083G>T	ENSP00000481436.1:p.Lys361Asn
NM_000243.2:c.1716G>T , LRG_190t1:c.1716G>T	NP_000234.1:p.Lys572Asn
NM_001198536.1:c.1083G>T	NP_001185465.1:p.Lys361Asn
XM_017023236.2:c.1713G>T	XP_016878725.1:p.Lys571Asn
XR_001751903.1:n.1905G>T
NM_000243.3:c.1716G>T MANE Select	NP_000234.1:p.Lys572Asn
NM_001198536.2:c.1083G>T	NP_001185465.2:p.Lys361Asn