Canonical Allele Identifier: CA10643551

Gene: MEFV

Linked Data

• ClinVar Variation Id: 319100
• ClinVar RCV Id: RCV000402334
• dbSNP Id: rs746257932
• gnomAD v2: 16-3292671-TCAA-T
• gnomAD v3: 16-3242671-TCAA-T
• gnomAD v4: 16-3242671-TCAA-T
• MyVariant Identifiers: chr16:g.3292672_3292674del (hg19) ; chr16:g.3242672_3242674del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242672_3242674del , CM000678.2:g.3242672_3242674del	GRCh38
NC_000016.9:g.3292672_3292674del , CM000678.1:g.3292672_3292674del	GRCh37
NC_000016.8:g.3232673_3232675del	NCBI36
NG_007871.1:g.18954_18956del , LRG_190:g.18954_18956del

Transcript Alleles

HGVS	Amino-acid change
ENST00000219596.6:c.*467_*469del MANE Select	ENSP00000219596.1:n.*467_*469del
ENST00000219596.5:c.*467_*469del	ENSP00000219596.1:n.*467_*469del
ENST00000339854.8:c.*467_*469del	ENSP00000339639.4:n.*467_*469del
ENST00000536980.5:c.*1089_*1091del	ENSP00000444178.1:n.*1089_*1091del
ENST00000537682.5:c.*1089_*1091del	ENSP00000438611.1:n.*1089_*1091del
ENST00000538326.5:c.*1438_*1440del	ENSP00000437486.1:n.*1438_*1440del
ENST00000542898.5:c.*1089_*1091del	ENSP00000444615.1:n.*1089_*1091del
NM_000243.2:c.*467_*469del , LRG_190t1:c.*467_*469del	NP_000234.1:n.*467_*469del
NM_001198536.1:c.*1017_*1019del	NP_001185465.1:n.*1017_*1019del
NM_000243.3:c.*467_*469del MANE Select	NP_000234.1:n.*467_*469del
NM_001198536.2:c.*1017_*1019del	NP_001185465.2:n.*1017_*1019del