Canonical Allele Identifier: CA2581247522

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242896-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242896C>G , CM000678.2:g.3242896C>G	GRCh38
NC_000016.9:g.3292896C>G , CM000678.1:g.3292896C>G	GRCh37
NC_000016.8:g.3232897C>G	NCBI36
NG_007871.1:g.18732G>C , LRG_190:g.18732G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1712G>C
ENST00000219596.6:c.*245G>C MANE Select	ENSP00000219596.1:n.*245G>C
ENST00000219596.5:c.*245G>C	ENSP00000219596.1:n.*245G>C
ENST00000339854.8:c.*245G>C	ENSP00000339639.4:n.*245G>C
ENST00000536980.5:c.*867G>C	ENSP00000444178.1:n.*867G>C
ENST00000537682.5:c.*867G>C	ENSP00000438611.1:n.*867G>C
ENST00000538326.5:c.*1216G>C	ENSP00000437486.1:n.*1216G>C
ENST00000542898.5:c.*867G>C	ENSP00000444615.1:n.*867G>C
NM_000243.2:c.*245G>C , LRG_190t1:c.*245G>C	NP_000234.1:n.*245G>C
NM_001198536.1:c.*795G>C	NP_001185465.1:n.*795G>C
NM_000243.3:c.*245G>C MANE Select	NP_000234.1:n.*245G>C
NM_001198536.2:c.*795G>C	NP_001185465.2:n.*795G>C