Canonical Allele Identifier: CA8335325
Gene: SLC16A11 HGNC NCBI
COSMIC:
COSM4130541 (not active)
MyVariant.info:
GRCh38 chr17:g.7042968T>C
GRCh37 chr17:g.6946287T>C
Revel Score:
ENST00000308009 0.108
ENST00000447225 0.108
gnomAD v2:
17:6946287 T / C
gnomAD v3:
17:7042968 T / C
gnomAD v4:
chr17-7042968-T-C
Joint Max Group AF 0.33550213 (AFR)
Genomes Max Group AF 0.32933992 (AFR)
Exomes Max Group AF 0.33993226 (AFR)
ClinVar RCV:
RCV001540485
ClinVar Variation:
1182780
dbSNP:
13342692
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7042968T>C , CM000679.2:g.7042968T>C GRCh38
NC_000017.10:g.6946287T>C , CM000679.1:g.6946287T>C GRCh37
NC_000017.9:g.6887011T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000574600.3:c.308A>G MANE Select ENSP00000460927.2:p.Asp103Gly
ENST00000662352.3:c.308A>G ENSP00000499634.1:p.Asp103Gly
ENST00000673828.2:c.308A>G ENSP00000501313.1:p.Asp103Gly
ENST00000308009.5:c.380A>G ENSP00000310490.1:p.Asp127Gly
ENST00000447225.1:c.308A>G ENSP00000394449.1:p.Asp103Gly
ENST00000573338.1:n.639A>G
NM_153357.1:c.380A>G NP_699188.1:p.Asp127Gly
XM_005256488.2:c.665A>G XP_005256545.2:p.Asp222Gly
XM_011523696.1:c.665A>G XP_011521998.1:p.Asp222Gly
XM_005256488.4:c.665A>G XP_005256545.2:p.Asp222Gly
XM_017024281.1:c.665A>G XP_016879770.1:p.Asp222Gly
XM_017024282.2:c.665A>G XP_016879771.1:p.Asp222Gly
NM_153357.2:c.308A>G NP_699188.2:p.Asp103Gly
NM_001370549.1:c.308A>G MANE Select NP_001357478.1:p.Asp103Gly
NM_001370553.1:c.308A>G NP_001357482.1:p.Asp103Gly
NM_153357.3:c.308A>G NP_699188.2:p.Asp103Gly
Search 100 bp 5'
Search 100 bp 3'