Canonical Allele Identifier: CA276904657

Gene: MEFV

Linked Data

• dbSNP Id: rs933481836
• gnomAD v4: 16-3256592-C-T
• MyVariant Identifiers: chr16:g.3306592C>T (hg19) ; chr16:g.3256592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3256592C>T , CM000678.2:g.3256592C>T	GRCh38
NC_000016.9:g.3306592C>T , CM000678.1:g.3306592C>T	GRCh37
NC_000016.8:g.3246593C>T	NCBI36
NG_007871.1:g.5036G>A , LRG_190:g.5036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.-5G>A MANE Select	ENSP00000219596.1:n.-5G>A
ENST00000219596.5:c.-5G>A	ENSP00000219596.1:n.-5G>A
ENST00000339854.8:c.-5G>A	ENSP00000339639.4:n.-5G>A
ENST00000536980.5:c.-5G>A	ENSP00000444178.1:n.-5G>A
ENST00000537682.5:c.-5G>A	ENSP00000438611.1:n.-5G>A
ENST00000538326.5:c.-5G>A	ENSP00000437486.1:n.-5G>A
ENST00000542898.5:c.-5G>A	ENSP00000444615.1:n.-5G>A
NM_000243.2:c.-5G>A , LRG_190t1:c.-5G>A	NP_000234.1:n.-5G>A
NM_001198536.1:c.-5G>A	NP_001185465.1:n.-5G>A
XM_017023236.2:c.-5G>A	XP_016878725.1:n.-5G>A
XR_001751903.1:n.185G>A
NM_000243.3:c.-5G>A MANE Select	NP_000234.1:n.-5G>A
NM_001198536.2:c.-5G>A	NP_001185465.2:n.-5G>A