Canonical Allele Identifier: CA1099423678
Gene:

Linked Data

dbSNP Id: rs1787182597
gnomAD v3: 7-24282652-C-G
gnomAD v4: 7-24282652-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24282652C>G , CM000669.2:g.24282652C>G GRCh38
NC_000007.13:g.24322271C>G , CM000669.1:g.24322271C>G GRCh37
NC_000007.12:g.24288796C>G NCBI36
NG_016148.1:g.3465C>G

Transcript Alleles

HGVS Amino-acid change
XM_017012910.1:c.42-26953G>C XP_016868399.1:n.42-26953G>C
XM_017012911.1:c.42-26953G>C XP_016868400.1:n.42-26953G>C
XR_001745121.1:n.473+36705G>C
XR_001745122.1:n.345-85623G>C
XR_001745123.1:n.473+36705G>C
XR_001745124.1:n.473+36705G>C
XR_001745125.1:n.473+36705G>C
XR_001745126.1:n.473+36705G>C
XR_001745127.1:n.345-26953G>C
XR_001745129.1:n.473+36705G>C
XR_001745130.1:n.473+36705G>C
XR_001745131.1:n.473+36705G>C
XR_001745132.1:n.473+36705G>C
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