Canonical Allele Identifier: CA973875057

Gene: MEFV

Linked Data

• dbSNP Id: rs1958879272
• gnomAD v3: 16-3242990-C-G
• gnomAD v4: 16-3242990-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242990C>G , CM000678.2:g.3242990C>G	GRCh38
NC_000016.9:g.3292990C>G , CM000678.1:g.3292990C>G	GRCh37
NC_000016.8:g.3232991C>G	NCBI36
NG_007871.1:g.18638G>C , LRG_190:g.18638G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1618G>C
ENST00000219596.6:c.*151G>C MANE Select	ENSP00000219596.1:n.*151G>C
ENST00000219596.5:c.*151G>C	ENSP00000219596.1:n.*151G>C
ENST00000339854.8:c.*151G>C	ENSP00000339639.4:n.*151G>C
ENST00000536980.5:c.*773G>C	ENSP00000444178.1:n.*773G>C
ENST00000537682.5:c.*773G>C	ENSP00000438611.1:n.*773G>C
ENST00000538326.5:c.*1122G>C	ENSP00000437486.1:n.*1122G>C
ENST00000542898.5:c.*773G>C	ENSP00000444615.1:n.*773G>C
NM_000243.2:c.*151G>C , LRG_190t1:c.*151G>C	NP_000234.1:n.*151G>C
NM_001198536.1:c.*701G>C	NP_001185465.1:n.*701G>C
NM_000243.3:c.*151G>C MANE Select	NP_000234.1:n.*151G>C
NM_001198536.2:c.*701G>C	NP_001185465.2:n.*701G>C