Canonical Allele Identifier: CA7860043

Gene: MEFV

Linked Data

• dbSNP Id: rs550970304
• ExAC: 16:3294556 G / C
• gnomAD v2: 16-3294556-G-C
• gnomAD v3: 16-3244556-G-C
• gnomAD v4: 16-3244556-G-C
• MyVariant Identifiers: chr16:g.3294556G>C (hg19) ; chr16:g.3244556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244556G>C , CM000678.2:g.3244556G>C	GRCh38
NC_000016.9:g.3294556G>C , CM000678.1:g.3294556G>C	GRCh37
NC_000016.8:g.3234557G>C	NCBI36
NG_007871.1:g.17072C>G , LRG_190:g.17072C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.764C>G
ENST00000219596.6:c.1643C>G MANE Select	ENSP00000219596.1:p.Thr548Ser
ENST00000219596.5:c.1643C>G	ENSP00000219596.1:p.Thr548Ser
ENST00000339854.8:c.1103C>G	ENSP00000339639.4:p.Thr368Ser
ENST00000536379.5:c.1010C>G	ENSP00000445079.1:p.Thr337Ser
ENST00000536980.5:c.1010C>G	ENSP00000444178.1:p.Thr337Ser
ENST00000537682.5:c.1643C>G	ENSP00000438611.1:p.Thr548Ser
ENST00000538326.5:c.*268C>G	ENSP00000437486.1:n.*268C>G
ENST00000539145.5:c.564C>G	ENSP00000444471.1:n.564C>G
ENST00000541159.5:c.1010C>G	ENSP00000438711.1:p.Thr337Ser
ENST00000542898.5:c.1736C>G	ENSP00000444615.1:p.Thr579Ser
ENST00000570511.5:c.1165-664C>G	ENSP00000458312.1:n.1165-664C>G
ENST00000572244.5:c.333C>G	ENSP00000461186.1:n.333C>G
ENST00000574583.5:c.532-664C>G	ENSP00000460269.1:n.532-664C>G
ENST00000576315.5:c.532-270C>G	ENSP00000460551.1:n.532-270C>G
ENST00000621655.1:c.1010C>G	ENSP00000481436.1:p.Thr337Ser
NM_000243.2:c.1643C>G , LRG_190t1:c.1643C>G	NP_000234.1:p.Thr548Ser
NM_001198536.1:c.1010C>G	NP_001185465.1:p.Thr337Ser
XM_017023236.2:c.1640C>G	XP_016878725.1:p.Thr547Ser
XR_001751903.1:n.1832C>G
NM_000243.3:c.1643C>G MANE Select	NP_000234.1:p.Thr548Ser
NM_001198536.2:c.1010C>G	NP_001185465.2:p.Thr337Ser