Canonical Allele Identifier: CA276896126

Gene: MEFV

Linked Data

• ClinVar Variation Id: 864685
• ClinVar RCV Id: RCV001071930 ; RCV002489718 ; RCV003127622 ; RCV003127623
• dbSNP Id: rs952604863
• gnomAD v3: 16-3244518-G-A
• gnomAD v4: 16-3244518-G-A
• MyVariant Identifiers: chr16:g.3294518G>A (hg19) ; chr16:g.3244518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244518G>A , CM000678.2:g.3244518G>A	GRCh38
NC_000016.9:g.3294518G>A , CM000678.1:g.3294518G>A	GRCh37
NC_000016.8:g.3234519G>A	NCBI36
NG_007871.1:g.17110C>T , LRG_190:g.17110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.802C>T
ENST00000219596.6:c.1681C>T MANE Select	ENSP00000219596.1:p.His561Tyr
ENST00000219596.5:c.1681C>T	ENSP00000219596.1:p.His561Tyr
ENST00000339854.8:c.1141C>T	ENSP00000339639.4:p.His381Tyr
ENST00000536379.5:c.1048C>T	ENSP00000445079.1:p.His350Tyr
ENST00000536980.5:c.1048C>T	ENSP00000444178.1:p.His350Tyr
ENST00000537682.5:c.1681C>T	ENSP00000438611.1:p.His561Tyr
ENST00000538326.5:c.*306C>T	ENSP00000437486.1:n.*306C>T
ENST00000539145.5:c.602C>T	ENSP00000444471.1:n.602C>T
ENST00000541159.5:c.1048C>T	ENSP00000438711.1:p.His350Tyr
ENST00000542898.5:c.1774C>T	ENSP00000444615.1:p.His592Tyr
ENST00000570511.5:c.1165-626C>T	ENSP00000458312.1:n.1165-626C>T
ENST00000572244.5:c.371C>T	ENSP00000461186.1:n.371C>T
ENST00000574583.5:c.532-626C>T	ENSP00000460269.1:n.532-626C>T
ENST00000576315.5:c.532-232C>T	ENSP00000460551.1:n.532-232C>T
ENST00000621655.1:c.1048C>T	ENSP00000481436.1:p.His350Tyr
NM_000243.2:c.1681C>T , LRG_190t1:c.1681C>T	NP_000234.1:p.His561Tyr
NM_001198536.1:c.1048C>T	NP_001185465.1:p.His350Tyr
XM_017023236.2:c.1678C>T	XP_016878725.1:p.His560Tyr
XR_001751903.1:n.1870C>T
NM_000243.3:c.1681C>T MANE Select	NP_000234.1:p.His561Tyr
NM_001198536.2:c.1048C>T	NP_001185465.2:p.His350Tyr