Canonical Allele Identifier: CA17879967

Gene: C1orf127

Linked Data

• dbSNP Id: rs11810720
• gnomAD v2: 1-11033157-C-T
• gnomAD v3: 1-10973100-C-T
• gnomAD v4: 1-10973100-C-T
• MyVariant Identifiers: chr1:g.11033157C>T (hg19) ; chr1:g.10973100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10973100C>T , CM000663.2:g.10973100C>T	GRCh38
NC_000001.10:g.11033157C>T , CM000663.1:g.11033157C>T	GRCh37
NC_000001.9:g.10955744C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000377004.9:c.128-3011G>A MANE Select	ENSP00000366203.4:n.128-3011G>A
ENST00000377004.8:c.128-3011G>A	ENSP00000366203.4:n.128-3011G>A
ENST00000520253.1:c.61-3011G>A
NM_001170754.1:c.128-3011G>A	NP_001164225.1:n.128-3011G>A
NM_001170754.2:c.128-3011G>A MANE Select	NP_001164225.1:n.128-3011G>A