Canonical Allele Identifier: CA885376344
Gene: C1orf127 HGNC NCBI

Linked Data

dbSNP Id: rs1342368926
gnomAD v3: 1-10973127-C-G
gnomAD v4: 1-10973127-C-G
MyVariant Identifiers: chr1:g.11033184C>G (hg19) chr1:g.10973127C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10973127C>G , CM000663.2:g.10973127C>G GRCh38
NC_000001.10:g.11033184C>G , CM000663.1:g.11033184C>G GRCh37
NC_000001.9:g.10955771C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000377004.9:c.127+3029G>C MANE Select ENSP00000366203.4:n.127+3029G>C
ENST00000377004.8:c.127+3029G>C ENSP00000366203.4:n.127+3029G>C
ENST00000520253.1:c.60+3029G>C
NM_001170754.1:c.127+3029G>C NP_001164225.1:n.127+3029G>C
NM_001170754.2:c.127+3029G>C MANE Select NP_001164225.1:n.127+3029G>C
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