Canonical Allele Identifier: CA679808354
Gene: DHCR7 HGNC NCBI

Linked Data

dbSNP Id: rs1350392275
MyVariant Identifiers: chr11:g.71142394T>C (hg19) chr11:g.71431348T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71431348T>C , CM000673.2:g.71431348T>C GRCh38
NC_000011.9:g.71142394T>C , CM000673.1:g.71142394T>C GRCh37
NC_000011.8:g.70820042T>C NCBI36
NG_012655.2:g.22084A>G , LRG_340:g.22084A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000534795.5:c.320-2496A>G
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