Canonical Allele Identifier: CA2681379283

Gene: C7orf50

Linked Data

• gnomAD v4: 7-983100-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.983100T>C , CM000669.2:g.983100T>C	GRCh38
NC_000007.13:g.1022736T>C , CM000669.1:g.1022736T>C	GRCh37
NC_000007.12:g.989262T>C	NCBI36
NG_007934.1:g.4902T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_005249889.3:c.523-4039A>G	XP_005249946.2:n.523-4039A>G
XM_011515580.1:c.1108-4039A>G	XP_011513882.1:n.1108-4039A>G
XM_011515581.1:c.565-4039A>G	XP_011513883.1:n.565-4039A>G
XM_011515582.1:c.565-4039A>G	XP_011513884.1:n.565-4039A>G
XM_011515583.1:c.565-4039A>G	XP_011513885.1:n.565-4039A>G
XM_011515584.1:c.565-4039A>G	XP_011513886.1:n.565-4039A>G
NR_156697.1:n.548-4039A>G
XM_011515581.3:c.565-4039A>G	XP_011513883.1:n.565-4039A>G
XM_011515582.3:c.565-4039A>G	XP_011513884.1:n.565-4039A>G
XM_011515583.2:c.565-4039A>G	XP_011513885.1:n.565-4039A>G
XM_011515584.2:c.565-4039A>G	XP_011513886.1:n.565-4039A>G
XM_017012720.2:c.565-4039A>G	XP_016868209.1:n.565-4039A>G
XM_017012721.2:c.523-4039A>G	XP_016868210.1:n.523-4039A>G
NR_156697.2:n.548-4039A>G