Canonical Allele Identifier: CA885376312
Gene: C1orf127 HGNC NCBI

Linked Data

dbSNP Id: rs1440228445
gnomAD v3: 1-10973004-G-A
gnomAD v4: 1-10973004-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10973004G>A , CM000663.2:g.10973004G>A GRCh38
NC_000001.10:g.11033061G>A , CM000663.1:g.11033061G>A GRCh37
NC_000001.9:g.10955648G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377004.9:c.128-2915C>T MANE Select ENSP00000366203.4:n.128-2915C>T
ENST00000377004.8:c.128-2915C>T ENSP00000366203.4:n.128-2915C>T
ENST00000520253.1:c.61-2915C>T
NM_001170754.1:c.128-2915C>T NP_001164225.1:n.128-2915C>T
NM_001170754.2:c.128-2915C>T MANE Select NP_001164225.1:n.128-2915C>T