Canonical Allele Identifier: CA8366175
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 471238
dbSNP Id: rs201587670
gnomAD v2: 17-7918198-G-C
gnomAD v3: 17-8014880-G-C
gnomAD v4: 17-8014880-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8014880G>C , CM000679.2:g.8014880G>C GRCh38
NC_000017.10:g.7918198G>C , CM000679.1:g.7918198G>C GRCh37
NC_000017.9:g.7858923G>C NCBI36
NG_009092.1:g.17211G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2598G>C MANE Select ENSP00000254854.4:p.Lys866Asn
ENST00000254854.4:c.2598G>C ENSP00000254854.4:p.Lys866Asn
NM_000180.3:c.2598G>C NP_000171.1:p.Lys866Asn
XM_011523816.1:c.2598G>C XP_011522118.1:p.Lys866Asn
NM_000180.4:c.2598G>C MANE Select NP_000171.1:p.Lys866Asn