Canonical Allele Identifier: CA7860560
Gene: MEFV HGNC NCBI

Linked Data

dbSNP Id: rs199796428
ExAC: 16:3306631 T / C
gnomAD v2: 16-3306631-T-C
gnomAD v3: 16-3256631-T-C
gnomAD v4: 16-3256631-T-C
MyVariant Identifiers: chr16:g.3306631T>C (hg19) chr16:g.3256631T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3256631T>C , CM000678.2:g.3256631T>C GRCh38
NC_000016.9:g.3306631T>C , CM000678.1:g.3306631T>C GRCh37
NC_000016.8:g.3246632T>C NCBI36
NG_007871.1:g.4997A>G , LRG_190:g.4997A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219596.6:c.-44A>G MANE Select ENSP00000219596.1:n.-44A>G
XM_017023236.2:c.-44A>G XP_016878725.1:n.-44A>G
XR_001751903.1:n.146A>G
NM_000243.3:c.-44A>G MANE Select NP_000234.1:n.-44A>G
NM_001198536.2:c.-44A>G NP_001185465.2:n.-44A>G
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