Canonical Allele Identifier: CA17879689
Gene: C1orf127 HGNC NCBI

Linked Data

dbSNP Id: rs943442674
gnomAD v3: 1-10972602-T-C
gnomAD v4: 1-10972602-T-C
MyVariant Identifiers: chr1:g.11032659T>C (hg19) chr1:g.10972602T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10972602T>C , CM000663.2:g.10972602T>C GRCh38
NC_000001.10:g.11032659T>C , CM000663.1:g.11032659T>C GRCh37
NC_000001.9:g.10955246T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377004.9:c.128-2513A>G MANE Select ENSP00000366203.4:n.128-2513A>G
ENST00000377004.8:c.128-2513A>G ENSP00000366203.4:n.128-2513A>G
ENST00000520253.1:c.61-2513A>G
NM_001170754.1:c.128-2513A>G NP_001164225.1:n.128-2513A>G
NM_001170754.2:c.128-2513A>G MANE Select NP_001164225.1:n.128-2513A>G
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