Canonical Allele Identifier: CA2631333054

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242946-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242946C>G , CM000678.2:g.3242946C>G	GRCh38
NC_000016.9:g.3292946C>G , CM000678.1:g.3292946C>G	GRCh37
NC_000016.8:g.3232947C>G	NCBI36
NG_007871.1:g.18682G>C , LRG_190:g.18682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1662G>C
ENST00000219596.6:c.*195G>C MANE Select	ENSP00000219596.1:n.*195G>C
ENST00000219596.5:c.*195G>C	ENSP00000219596.1:n.*195G>C
ENST00000339854.8:c.*195G>C	ENSP00000339639.4:n.*195G>C
ENST00000536980.5:c.*817G>C	ENSP00000444178.1:n.*817G>C
ENST00000537682.5:c.*817G>C	ENSP00000438611.1:n.*817G>C
ENST00000538326.5:c.*1166G>C	ENSP00000437486.1:n.*1166G>C
ENST00000542898.5:c.*817G>C	ENSP00000444615.1:n.*817G>C
NM_000243.2:c.*195G>C , LRG_190t1:c.*195G>C	NP_000234.1:n.*195G>C
NM_001198536.1:c.*745G>C	NP_001185465.1:n.*745G>C
NM_000243.3:c.*195G>C MANE Select	NP_000234.1:n.*195G>C
NM_001198536.2:c.*745G>C	NP_001185465.2:n.*745G>C