Canonical Allele Identifier: CA122690
Gene: SDC3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.30876800C>T
GRCh37 chr1:g.31349647C>T
Revel Score:
ENST00000336798 0.003
ENST00000339394 (MANE Select) 0.003
gnomAD v2:
1:31349647 C / T
gnomAD v3:
1:30876800 C / T
gnomAD v4:
chr1-30876800-C-T
Joint Max Group AF 0.2227023 (NFE)
Genomes Max Group AF 0.22130012 (NFE)
Exomes Max Group AF 0.2226272 (NFE)
ClinVar RCV:
RCV000013593
ClinVar Variation:
12756
dbSNP:
2491132
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.30876800C>T , CM000663.2:g.30876800C>T GRCh38
NC_000001.10:g.31349647C>T , CM000663.1:g.31349647C>T GRCh37
NC_000001.9:g.31122234C>T NCBI36
NG_013371.1:g.36834G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339394.7:c.622G>A MANE Select ENSP00000344468.6:p.Val208Ile
ENST00000336798.11:c.448G>A ENSP00000338346.7:p.Val150Ile
ENST00000339394.6:c.622G>A ENSP00000344468.6:p.Val208Ile
ENST00000471567.1:n.556G>A
NM_014654.3:c.622G>A NP_055469.3:p.Val208Ile
XM_011542462.1:c.625G>A XP_011540764.1:p.Val209Ile
XM_011542463.1:c.589G>A XP_011540765.1:p.Val197Ile
XM_011542464.1:c.586G>A XP_011540766.1:p.Val196Ile
XM_011542465.1:c.547G>A XP_011540767.1:p.Val183Ile
XM_011542466.1:c.496G>A XP_011540768.1:p.Val166Ile
XM_011542464.2:c.586G>A XP_011540766.1:p.Val196Ile
NM_014654.4:c.622G>A MANE Select NP_055469.3:p.Val208Ile
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