Canonical Allele Identifier: CA4002337
Gene: ENPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2597232
ClinVar RCV Id: RCV003341461 RCV003777525
dbSNP Id: rs559298860
ExAC: 6:132198235 C / G
gnomAD v2: 6-132198235-C-G
gnomAD v3: 6-131877095-C-G
gnomAD v4: 6-131877095-C-G
MyVariant Identifiers: chr6:g.132198235C>G (hg19) chr6:g.131877095C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131877095C>G , CM000668.2:g.131877095C>G GRCh38
NC_000006.11:g.132198235C>G , CM000668.1:g.132198235C>G GRCh37
NC_000006.10:g.132239928C>G NCBI36
NG_008206.1:g.74080C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683687.1:n.699C>G
ENST00000684536.1:n.325C>G
ENST00000647893.1:c.1827C>G MANE Select ENSP00000498074.1:p.His609Gln
ENST00000647981.1:n.512C>G
ENST00000650437.1:c.1318C>G
ENST00000360971.6:c.1827C>G ENSP00000354238.2:p.His609Gln
ENST00000459624.1:n.871C>G
ENST00000513998.5:c.*664C>G ENSP00000422424.1:n.*664C>G
NM_006208.2:c.1827C>G NP_006199.2:p.His609Gln
XM_011535896.1:c.717C>G XP_011534198.1:p.His239Gln
NM_006208.3:c.1827C>G MANE Select NP_006199.2:p.His609Gln
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