Canonical Allele Identifier: CA620433560

Gene: MEFV

Linked Data

• dbSNP Id: rs1409478152
• gnomAD v2: 16-3292998-G-A
• gnomAD v3: 16-3242998-G-A
• gnomAD v4: 16-3242998-G-A
• MyVariant Identifiers: chr16:g.3292998G>A (hg19) ; chr16:g.3242998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242998G>A , CM000678.2:g.3242998G>A	GRCh38
NC_000016.9:g.3292998G>A , CM000678.1:g.3292998G>A	GRCh37
NC_000016.8:g.3232999G>A	NCBI36
NG_007871.1:g.18630C>T , LRG_190:g.18630C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1610C>T
ENST00000219596.6:c.*143C>T MANE Select	ENSP00000219596.1:n.*143C>T
ENST00000219596.5:c.*143C>T	ENSP00000219596.1:n.*143C>T
ENST00000339854.8:c.*143C>T	ENSP00000339639.4:n.*143C>T
ENST00000536980.5:c.*765C>T	ENSP00000444178.1:n.*765C>T
ENST00000537682.5:c.*765C>T	ENSP00000438611.1:n.*765C>T
ENST00000538326.5:c.*1114C>T	ENSP00000437486.1:n.*1114C>T
ENST00000542898.5:c.*765C>T	ENSP00000444615.1:n.*765C>T
NM_000243.2:c.*143C>T , LRG_190t1:c.*143C>T	NP_000234.1:n.*143C>T
NM_001198536.1:c.*693C>T	NP_001185465.1:n.*693C>T
NM_000243.3:c.*143C>T MANE Select	NP_000234.1:n.*143C>T
NM_001198536.2:c.*693C>T	NP_001185465.2:n.*693C>T