Canonical Allele Identifier: CA885376260

Gene: C1orf127

Linked Data

• dbSNP Id: rs1307898865
• gnomAD v3: 1-10972919-C-G
• gnomAD v4: 1-10972919-C-G
• MyVariant Identifiers: chr1:g.11032976C>G (hg19) ; chr1:g.10972919C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10972919C>G , CM000663.2:g.10972919C>G	GRCh38
NC_000001.10:g.11032976C>G , CM000663.1:g.11032976C>G	GRCh37
NC_000001.9:g.10955563C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000377004.9:c.128-2830G>C MANE Select	ENSP00000366203.4:n.128-2830G>C
ENST00000377004.8:c.128-2830G>C	ENSP00000366203.4:n.128-2830G>C
ENST00000520253.1:c.61-2830G>C
NM_001170754.1:c.128-2830G>C	NP_001164225.1:n.128-2830G>C
NM_001170754.2:c.128-2830G>C MANE Select	NP_001164225.1:n.128-2830G>C