Canonical Allele Identifier: CA620436748
Gene: MEFV HGNC NCBI

Linked Data

dbSNP Id: rs199796428
gnomAD v2: 16-3306631-T-G
MyVariant Identifiers: chr16:g.3306631T>G (hg19) chr16:g.3256631T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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