Canonical Allele Identifier: CA720051504

Gene: MEFV

Linked Data

• dbSNP Id: rs1255362904
• gnomAD v3: 16-3256596-G-C
• gnomAD v4: 16-3256596-G-C
• MyVariant Identifiers: chr16:g.3306596G>C (hg19) ; chr16:g.3256596G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3256596G>C , CM000678.2:g.3256596G>C	GRCh38
NC_000016.9:g.3306596G>C , CM000678.1:g.3306596G>C	GRCh37
NC_000016.8:g.3246597G>C	NCBI36
NG_007871.1:g.5032C>G , LRG_190:g.5032C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.-9C>G MANE Select	ENSP00000219596.1:n.-9C>G
ENST00000219596.5:c.-9C>G	ENSP00000219596.1:n.-9C>G
ENST00000339854.8:c.-9C>G	ENSP00000339639.4:n.-9C>G
ENST00000536980.5:c.-9C>G	ENSP00000444178.1:n.-9C>G
ENST00000537682.5:c.-9C>G	ENSP00000438611.1:n.-9C>G
ENST00000538326.5:c.-9C>G	ENSP00000437486.1:n.-9C>G
ENST00000542898.5:c.-9C>G	ENSP00000444615.1:n.-9C>G
NM_000243.2:c.-9C>G , LRG_190t1:c.-9C>G	NP_000234.1:n.-9C>G
NM_001198536.1:c.-9C>G	NP_001185465.1:n.-9C>G
XM_017023236.2:c.-9C>G	XP_016878725.1:n.-9C>G
XR_001751903.1:n.181C>G
NM_000243.3:c.-9C>G MANE Select	NP_000234.1:n.-9C>G
NM_001198536.2:c.-9C>G	NP_001185465.2:n.-9C>G