Canonical Allele Identifier: CA153849575

Gene: GLCCI1-DT

Linked Data

• dbSNP Id: rs1042548650
• gnomAD v2: 7-8007829-C-T
• gnomAD v3: 7-7968198-C-T
• gnomAD v4: 7-7968198-C-T
• MyVariant Identifiers: chr7:g.8007829C>T (hg19) ; chr7:g.7968198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7968198C>T , CM000669.2:g.7968198C>T	GRCh38
NC_000007.13:g.8007829C>T , CM000669.1:g.8007829C>T	GRCh37
NC_000007.12:g.7974354C>T	NCBI36
NG_032073.1:g.4456C>T

Transcript Alleles

HGVS	Amino-acid Change
NR_110018.1:n.209+346G>A