Canonical Allele Identifier: CA2681379229

Gene: C7orf50

Linked Data

• gnomAD v4: 7-983071-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.983071G>T , CM000669.2:g.983071G>T	GRCh38
NC_000007.13:g.1022707G>T , CM000669.1:g.1022707G>T	GRCh37
NC_000007.12:g.989233G>T	NCBI36
NG_007934.1:g.4873G>T

Transcript Alleles

HGVS	Amino-acid Change
XM_005249889.3:c.523-4010C>A	XP_005249946.2:n.523-4010C>A
XM_011515580.1:c.1108-4010C>A	XP_011513882.1:n.1108-4010C>A
XM_011515581.1:c.565-4010C>A	XP_011513883.1:n.565-4010C>A
XM_011515582.1:c.565-4010C>A	XP_011513884.1:n.565-4010C>A
XM_011515583.1:c.565-4010C>A	XP_011513885.1:n.565-4010C>A
XM_011515584.1:c.565-4010C>A	XP_011513886.1:n.565-4010C>A
NR_156697.1:n.548-4010C>A
XM_011515581.3:c.565-4010C>A	XP_011513883.1:n.565-4010C>A
XM_011515582.3:c.565-4010C>A	XP_011513884.1:n.565-4010C>A
XM_011515583.2:c.565-4010C>A	XP_011513885.1:n.565-4010C>A
XM_011515584.2:c.565-4010C>A	XP_011513886.1:n.565-4010C>A
XM_017012720.2:c.565-4010C>A	XP_016868209.1:n.565-4010C>A
XM_017012721.2:c.523-4010C>A	XP_016868210.1:n.523-4010C>A
NR_156697.2:n.548-4010C>A