Canonical Allele Identifier: CA2681379282

Gene: C7orf50

Linked Data

• gnomAD v4: 7-983099-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.983099T>G , CM000669.2:g.983099T>G	GRCh38
NC_000007.13:g.1022735T>G , CM000669.1:g.1022735T>G	GRCh37
NC_000007.12:g.989261T>G	NCBI36
NG_007934.1:g.4901T>G

Transcript Alleles

HGVS	Amino-acid Change
XM_005249889.3:c.523-4038A>C	XP_005249946.2:n.523-4038A>C
XM_011515580.1:c.1108-4038A>C	XP_011513882.1:n.1108-4038A>C
XM_011515581.1:c.565-4038A>C	XP_011513883.1:n.565-4038A>C
XM_011515582.1:c.565-4038A>C	XP_011513884.1:n.565-4038A>C
XM_011515583.1:c.565-4038A>C	XP_011513885.1:n.565-4038A>C
XM_011515584.1:c.565-4038A>C	XP_011513886.1:n.565-4038A>C
NR_156697.1:n.548-4038A>C
XM_011515581.3:c.565-4038A>C	XP_011513883.1:n.565-4038A>C
XM_011515582.3:c.565-4038A>C	XP_011513884.1:n.565-4038A>C
XM_011515583.2:c.565-4038A>C	XP_011513885.1:n.565-4038A>C
XM_011515584.2:c.565-4038A>C	XP_011513886.1:n.565-4038A>C
XM_017012720.2:c.565-4038A>C	XP_016868209.1:n.565-4038A>C
XM_017012721.2:c.523-4038A>C	XP_016868210.1:n.523-4038A>C
NR_156697.2:n.548-4038A>C