Canonical Allele Identifier: CA174001
Gene: GUCY2C HGNC NCBI
C12orf60 HGNC NCBI
COSMIC:
COSM275408
MyVariant.info:
GRCh38 chr12:g.14641142C>T
GRCh37 chr12:g.14794076C>T
Revel Score:
ENST00000261170 (MANE Select) 0.117
gnomAD v2:
12:14794076 C / T
gnomAD v3:
12:14641142 C / T
gnomAD v4:
chr12-14641142-C-T
Joint Max Group AF 0.00013645 (MID)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00006226 (MID)
ClinVar RCV:
RCV000148339
RCV003556194
ClinVar Variation:
161158
dbSNP:
587784572
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14641142C>T , CM000674.2:g.14641142C>T GRCh38
NC_000012.11:g.14794076C>T , CM000674.1:g.14794076C>T GRCh37
NC_000012.10:g.14685343C>T NCBI36
NG_052021.1:g.60444G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261170.5:c.2008G>A (GUCY2C) MANE Select ENSP00000261170.3:p.Ala670Thr
ENST00000261170.4:c.2008G>A (GUCY2C) ENSP00000261170.3:p.Ala670Thr
NM_004963.3:c.2008G>A (GUCY2C) NP_004954.2:p.Ala670Thr
XM_011520631.1:c.1762G>A (GUCY2C) XP_011518933.1:p.Ala588Thr
XM_011520631.2:c.1762G>A (GUCY2C) XP_011518933.1:p.Ala588Thr
XR_001748595.1:n.700+21226C>T (C12orf60)
XR_001748596.1:n.700+21226C>T (C12orf60)
XR_001748597.1:n.700+21226C>T (C12orf60)
XR_001748598.2:n.701-19722C>T (C12orf60)
XR_001748599.1:n.701-9789C>T (C12orf60)
NM_004963.4:c.2008G>A (GUCY2C) MANE Select NP_004954.2:p.Ala670Thr
Search 100 bp 5'
Search 100 bp 3'