Canonical Allele Identifier: CA10637678

Gene: MEFV

Linked Data

• ClinVar Variation Id: 319105
• ClinVar RCV Id: RCV000313096
• dbSNP Id: rs558576646
• gnomAD v2: 16-3292972-G-A
• gnomAD v3: 16-3242972-G-A
• gnomAD v4: 16-3242972-G-A
• MyVariant Identifiers: chr16:g.3292972G>A (hg19) ; chr16:g.3242972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242972G>A , CM000678.2:g.3242972G>A	GRCh38
NC_000016.9:g.3292972G>A , CM000678.1:g.3292972G>A	GRCh37
NC_000016.8:g.3232973G>A	NCBI36
NG_007871.1:g.18656C>T , LRG_190:g.18656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1636C>T
ENST00000219596.6:c.*169C>T MANE Select	ENSP00000219596.1:n.*169C>T
ENST00000219596.5:c.*169C>T	ENSP00000219596.1:n.*169C>T
ENST00000339854.8:c.*169C>T	ENSP00000339639.4:n.*169C>T
ENST00000536980.5:c.*791C>T	ENSP00000444178.1:n.*791C>T
ENST00000537682.5:c.*791C>T	ENSP00000438611.1:n.*791C>T
ENST00000538326.5:c.*1140C>T	ENSP00000437486.1:n.*1140C>T
ENST00000542898.5:c.*791C>T	ENSP00000444615.1:n.*791C>T
NM_000243.2:c.*169C>T , LRG_190t1:c.*169C>T	NP_000234.1:n.*169C>T
NM_001198536.1:c.*719C>T	NP_001185465.1:n.*719C>T
NM_000243.3:c.*169C>T MANE Select	NP_000234.1:n.*169C>T
NM_001198536.2:c.*719C>T	NP_001185465.2:n.*719C>T