Canonical Allele Identifier: CA7860488

Gene: MEFV

Linked Data

• ClinVar Variation Id: 516197
• ClinVar RCV Id: RCV000606307 ; RCV001280971 ; RCV000892020 ; RCV003224349 ; RCV003736853 ; RCV004544786
• dbSNP Id: rs7199464
• ExAC: 16:3306305 G / A
• gnomAD v2: 16-3306305-G-A
• gnomAD v3: 16-3256305-G-A
• gnomAD v4: 16-3256305-G-A
• MyVariant Identifiers: chr16:g.3306305G>A (hg19) ; chr16:g.3256305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3256305G>A , CM000678.2:g.3256305G>A	GRCh38
NC_000016.9:g.3306305G>A , CM000678.1:g.3306305G>A	GRCh37
NC_000016.8:g.3246306G>A	NCBI36
NG_007871.1:g.5323C>T , LRG_190:g.5323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.277+6C>T MANE Select	ENSP00000219596.1:n.277+6C>T
ENST00000219596.5:c.277+6C>T	ENSP00000219596.1:n.277+6C>T
ENST00000339854.8:c.277+6C>T	ENSP00000339639.4:n.277+6C>T
ENST00000536379.5:c.277+6C>T	ENSP00000445079.1:n.277+6C>T
ENST00000536980.5:c.277+6C>T	ENSP00000444178.1:n.277+6C>T
ENST00000537682.5:c.277+6C>T	ENSP00000438611.1:n.277+6C>T
ENST00000538326.5:c.277+6C>T	ENSP00000437486.1:n.277+6C>T
ENST00000539145.5:c.277+6C>T	ENSP00000444471.1:n.277+6C>T
ENST00000541159.5:c.277+6C>T	ENSP00000438711.1:n.277+6C>T
ENST00000542898.5:c.277+6C>T	ENSP00000444615.1:n.277+6C>T
ENST00000570511.5:c.277+6C>T	ENSP00000458312.1:n.277+6C>T
ENST00000572244.5:c.277+6C>T	ENSP00000461186.1:n.277+6C>T
ENST00000574583.5:c.277+6C>T	ENSP00000460269.1:n.277+6C>T
ENST00000576315.5:c.277+6C>T	ENSP00000460551.1:n.277+6C>T
ENST00000621655.1:c.277+6C>T	ENSP00000481436.1:n.277+6C>T
NM_000243.2:c.277+6C>T , LRG_190t1:c.277+6C>T	NP_000234.1:n.277+6C>T
NM_001198536.1:c.277+6C>T	NP_001185465.1:n.277+6C>T
XM_017023236.2:c.277+6C>T	XP_016878725.1:n.277+6C>T
XR_001751903.1:n.466+6C>T
NM_000243.3:c.277+6C>T MANE Select	NP_000234.1:n.277+6C>T
NM_001198536.2:c.277+6C>T	NP_001185465.2:n.277+6C>T