Canonical Allele Identifier: CA572084100

Gene: C7orf50

Linked Data

• dbSNP Id: rs1229381027
• gnomAD v2: 7-1022772-C-T
• gnomAD v3: 7-983136-C-T
• gnomAD v4: 7-983136-C-T
• MyVariant Identifiers: chr7:g.1022772C>T (hg19) ; chr7:g.983136C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.983136C>T , CM000669.2:g.983136C>T	GRCh38
NC_000007.13:g.1022772C>T , CM000669.1:g.1022772C>T	GRCh37
NC_000007.12:g.989298C>T	NCBI36
NG_007934.1:g.4938C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_005249889.3:c.523-4075G>A	XP_005249946.2:n.523-4075G>A
XM_011515580.1:c.1108-4075G>A	XP_011513882.1:n.1108-4075G>A
XM_011515581.1:c.565-4075G>A	XP_011513883.1:n.565-4075G>A
XM_011515582.1:c.565-4075G>A	XP_011513884.1:n.565-4075G>A
XM_011515583.1:c.565-4075G>A	XP_011513885.1:n.565-4075G>A
XM_011515584.1:c.565-4075G>A	XP_011513886.1:n.565-4075G>A
NR_156697.1:n.548-4075G>A
XM_011515581.3:c.565-4075G>A	XP_011513883.1:n.565-4075G>A
XM_011515582.3:c.565-4075G>A	XP_011513884.1:n.565-4075G>A
XM_011515583.2:c.565-4075G>A	XP_011513885.1:n.565-4075G>A
XM_011515584.2:c.565-4075G>A	XP_011513886.1:n.565-4075G>A
XM_017012720.2:c.565-4075G>A	XP_016868209.1:n.565-4075G>A
XM_017012721.2:c.523-4075G>A	XP_016868210.1:n.523-4075G>A
NR_156697.2:n.548-4075G>A