Canonical Allele Identifier: CA14374221
Gene: SMCR8 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.18315490T>C
GRCh37 chr17:g.18218804T>C
gnomAD v2:
17:18218804 T / C
gnomAD v3:
17:18315490 T / C
gnomAD v4:
chr17-18315490-T-C
Joint Max Group AF 0.85107458 (AFR)
Genomes Max Group AF 0.8511265 (AFR)
Exomes Max Group AF 0.83486532 (AFR)
dbSNP:
1563634
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18315490T>C , CM000679.2:g.18315490T>C GRCh38
NC_000017.10:g.18218804T>C , CM000679.1:g.18218804T>C GRCh37
NC_000017.9:g.18159529T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000406438.5:c.-300T>C MANE Select ENSP00000385025.3:n.-300T>C
ENST00000406438.4:c.-300T>C ENSP00000385025.3:n.-300T>C
NM_144775.2:c.-300T>C NP_658988.2:n.-300T>C
NM_144775.3:c.-300T>C MANE Select NP_658988.2:n.-300T>C
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