Canonical Allele Identifier: CA1097465808
Gene: C7orf50 HGNC NCBI

Linked Data

gnomAD v3: 7-983098-A-T
gnomAD v4: 7-983098-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.983098A>T , CM000669.2:g.983098A>T GRCh38
NC_000007.13:g.1022734A>T , CM000669.1:g.1022734A>T GRCh37
NC_000007.12:g.989260A>T NCBI36
NG_007934.1:g.4900A>T

Transcript Alleles

HGVS Amino-acid Change
XM_005249889.3:c.523-4037T>A XP_005249946.2:n.523-4037T>A
XM_011515580.1:c.1108-4037T>A XP_011513882.1:n.1108-4037T>A
XM_011515581.1:c.565-4037T>A XP_011513883.1:n.565-4037T>A
XM_011515582.1:c.565-4037T>A XP_011513884.1:n.565-4037T>A
XM_011515583.1:c.565-4037T>A XP_011513885.1:n.565-4037T>A
XM_011515584.1:c.565-4037T>A XP_011513886.1:n.565-4037T>A
NR_156697.1:n.548-4037T>A
XM_011515581.3:c.565-4037T>A XP_011513883.1:n.565-4037T>A
XM_011515582.3:c.565-4037T>A XP_011513884.1:n.565-4037T>A
XM_011515583.2:c.565-4037T>A XP_011513885.1:n.565-4037T>A
XM_011515584.2:c.565-4037T>A XP_011513886.1:n.565-4037T>A
XM_017012720.2:c.565-4037T>A XP_016868209.1:n.565-4037T>A
XM_017012721.2:c.523-4037T>A XP_016868210.1:n.523-4037T>A
NR_156697.2:n.548-4037T>A