Canonical Allele Identifier: CA17879817
Gene: C1orf127 HGNC NCBI

Linked Data

dbSNP Id: rs914132948
gnomAD v2: 1-11032959-C-A
gnomAD v3: 1-10972902-C-A
gnomAD v4: 1-10972902-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10972902C>A , CM000663.2:g.10972902C>A GRCh38
NC_000001.10:g.11032959C>A , CM000663.1:g.11032959C>A GRCh37
NC_000001.9:g.10955546C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377004.9:c.128-2813G>T MANE Select ENSP00000366203.4:n.128-2813G>T
ENST00000377004.8:c.128-2813G>T ENSP00000366203.4:n.128-2813G>T
ENST00000520253.1:c.61-2813G>T
NM_001170754.1:c.128-2813G>T NP_001164225.1:n.128-2813G>T
NM_001170754.2:c.128-2813G>T MANE Select NP_001164225.1:n.128-2813G>T