Canonical Allele Identifier: CA620436744
Gene: MEFV HGNC NCBI

Linked Data

dbSNP Id: rs1278912637
gnomAD v2: 16-3306628-T-C
gnomAD v4: 16-3256628-T-C
MyVariant Identifiers: chr16:g.3306628T>C (hg19) chr16:g.3256628T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3256628T>C , CM000678.2:g.3256628T>C GRCh38
NC_000016.9:g.3306628T>C , CM000678.1:g.3306628T>C GRCh37
NC_000016.8:g.3246629T>C NCBI36
NG_007871.1:g.5000A>G , LRG_190:g.5000A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219596.6:c.-41A>G MANE Select ENSP00000219596.1:n.-41A>G
XM_017023236.2:c.-41A>G XP_016878725.1:n.-41A>G
XR_001751903.1:n.149A>G
NM_000243.3:c.-41A>G MANE Select NP_000234.1:n.-41A>G
NM_001198536.2:c.-41A>G NP_001185465.2:n.-41A>G
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