Canonical Allele Identifier: CA153849590

Gene: GLCCI1-DT

Linked Data

• dbSNP Id: rs114325823
• gnomAD v2: 7-8007980-C-T
• gnomAD v3: 7-7968349-C-T
• gnomAD v4: 7-7968349-C-T
• MyVariant Identifiers: chr7:g.8007980C>T (hg19) ; chr7:g.7968349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7968349C>T , CM000669.2:g.7968349C>T	GRCh38
NC_000007.13:g.8007980C>T , CM000669.1:g.8007980C>T	GRCh37
NC_000007.12:g.7974505C>T	NCBI36
NG_032073.1:g.4607C>T

Transcript Alleles

HGVS	Amino-acid Change
NR_110018.1:n.209+195G>A