Canonical Allele Identifier: CA983702007
Gene:

Linked Data

dbSNP Id: rs1907069926
gnomAD v3: 17-40867267-G-C
gnomAD v4: 17-40867267-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867267G>C , CM000679.2:g.40867267G>C GRCh38
NC_000017.10:g.39023519G>C , CM000679.1:g.39023519G>C GRCh37
NC_000017.9:g.36277045G>C NCBI36
NG_008077.1:g.4944C>G

Transcript Alleles

HGVS Amino-acid Change
XR_934754.1:n.1500+16407G>C
XR_934754.2:n.2008+16407G>C
Search 100 bp 5'
Search 100 bp 3'