Canonical Allele Identifier: CA7860559

Gene: MEFV

Linked Data

• dbSNP Id: rs777294348
• ExAC: 16:3306610 AG / A
• gnomAD v2: 16-3306610-AG-A
• gnomAD v4: 16-3256610-AG-A
• MyVariant Identifiers: chr16:g.3306611del (hg19) ; chr16:g.3256611del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3256611del , CM000678.2:g.3256611del	GRCh38
NC_000016.9:g.3306611del , CM000678.1:g.3306611del	GRCh37
NC_000016.8:g.3246612del	NCBI36
NG_007871.1:g.5017del , LRG_190:g.5017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.-24del MANE Select	ENSP00000219596.1:n.-24del
ENST00000219596.5:c.-24del	ENSP00000219596.1:n.-24del
ENST00000339854.8:c.-24del	ENSP00000339639.4:n.-24del
ENST00000536980.5:c.-24del	ENSP00000444178.1:n.-24del
ENST00000537682.5:c.-24del	ENSP00000438611.1:n.-24del
ENST00000538326.5:c.-24del	ENSP00000437486.1:n.-24del
ENST00000542898.5:c.-24del	ENSP00000444615.1:n.-24del
NM_000243.2:c.-24del , LRG_190t1:c.-24del	NP_000234.1:n.-24del
NM_001198536.1:c.-24del	NP_001185465.1:n.-24del
XM_017023236.2:c.-24del	XP_016878725.1:n.-24del
XR_001751903.1:n.166del
NM_000243.3:c.-24del MANE Select	NP_000234.1:n.-24del
NM_001198536.2:c.-24del	NP_001185465.2:n.-24del