Canonical Allele Identifier: CA394485982

Gene: MEFV

Linked Data

• dbSNP Id: rs1334526084
• gnomAD v2: 16-3293387-C-G
• gnomAD v4: 16-3243387-C-G
• MyVariant Identifiers: chr16:g.3293387C>G (hg19) ; chr16:g.3243387C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243387C>G , CM000678.2:g.3243387C>G	GRCh38
NC_000016.9:g.3293387C>G , CM000678.1:g.3293387C>G	GRCh37
NC_000016.8:g.3233388C>G	NCBI36
NG_007871.1:g.18241G>C , LRG_190:g.18241G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1221G>C
ENST00000219596.6:c.2100G>C MANE Select	ENSP00000219596.1:p.Gln700His
ENST00000219596.5:c.2100G>C	ENSP00000219596.1:p.Gln700His
ENST00000339854.8:c.1560G>C	ENSP00000339639.4:p.Gln520His
ENST00000536379.5:c.1467G>C	ENSP00000445079.1:p.Gln489His
ENST00000536980.5:c.*376G>C	ENSP00000444178.1:n.*376G>C
ENST00000537682.5:c.*376G>C	ENSP00000438611.1:n.*376G>C
ENST00000538326.5:c.*725G>C	ENSP00000437486.1:n.*725G>C
ENST00000539145.5:c.1021G>C	ENSP00000444471.1:n.1021G>C
ENST00000541159.5:c.1642G>C	ENSP00000438711.1:n.1642G>C
ENST00000542898.5:c.*376G>C	ENSP00000444615.1:n.*376G>C
ENST00000570511.5:c.1505G>C	ENSP00000458312.1:n.1505G>C
ENST00000572244.5:c.790G>C	ENSP00000461186.1:n.790G>C
ENST00000574583.5:c.872G>C	ENSP00000460269.1:n.872G>C
ENST00000576315.5:c.905G>C	ENSP00000460551.1:n.905G>C
ENST00000621655.1:c.1637G>C	ENSP00000481436.1:n.1637G>C
NM_000243.2:c.2100G>C , LRG_190t1:c.2100G>C	NP_000234.1:p.Gln700His
NM_001198536.1:c.*304G>C	NP_001185465.1:n.*304G>C
XM_017023236.2:c.2097G>C	XP_016878725.1:p.Gln699His
NM_000243.3:c.2100G>C MANE Select	NP_000234.1:p.Gln700His
NM_001198536.2:c.*304G>C	NP_001185465.2:n.*304G>C