Canonical Allele Identifier: CA572797301

Gene: GLCCI1-DT

Linked Data

• dbSNP Id: rs1282650846
• gnomAD v2: 7-8007897-C-G
• gnomAD v3: 7-7968266-C-G
• gnomAD v4: 7-7968266-C-G
• MyVariant Identifiers: chr7:g.8007897C>G (hg19) ; chr7:g.7968266C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7968266C>G , CM000669.2:g.7968266C>G	GRCh38
NC_000007.13:g.8007897C>G , CM000669.1:g.8007897C>G	GRCh37
NC_000007.12:g.7974422C>G	NCBI36
NG_032073.1:g.4524C>G

Transcript Alleles

HGVS	Amino-acid Change
NR_110018.1:n.209+278G>C