Canonical Allele Identifier: CA12186939
Gene: DDR1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.30882805G>A
GRCh37 chr6:g.30850582G>A
gnomAD v2:
6:30850582 G / A
gnomAD v3:
6:30882805 G / A
gnomAD v4:
chr6-30882805-G-A
Joint Max Group AF 0.34667573 (NFE)
Genomes Max Group AF 0.34673364 (NFE)
Exomes Max Group AF 0.22785526 (NFE)
dbSNP:
1264327
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30882805G>A , CM000668.2:g.30882805G>A GRCh38
NC_000006.11:g.30850582G>A , CM000668.1:g.30850582G>A GRCh37
NC_000006.10:g.30958561G>A NCBI36
NG_029066.1:g.3722G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324771.12:c.-272+1680G>A ENSP00000318217.8:n.-272+1680G>A
ENST00000418800.6:c.-221G>A ENSP00000407699.2:n.-221G>A
ENST00000460944.6:c.-43+1680G>A ENSP00000426420.1:n.-43+1680G>A
ENST00000482050.1:n.76+1435G>A
ENST00000502955.5:c.-43+1680G>A ENSP00000424346.1:n.-43+1680G>A
ENST00000503180.5:c.-216+812G>A ENSP00000424468.1:n.-216+812G>A
ENST00000505066.5:c.-42-5883G>A ENSP00000421189.1:n.-42-5883G>A
ENST00000505534.5:c.-216+1680G>A ENSP00000420833.1:n.-216+1680G>A
ENST00000508317.5:c.-99+1680G>A ENSP00000427369.1:n.-99+1680G>A
ENST00000513749.5:c.-43+1680G>A ENSP00000421753.1:n.-43+1680G>A
NM_001297652.1:c.-221G>A NP_001284581.1:n.-221G>A
XM_011514884.1:c.-272+1680G>A XP_011513186.1:n.-272+1680G>A
XM_011514887.1:c.-43+1680G>A XP_011513189.1:n.-43+1680G>A
XM_011514887.2:c.-43+1680G>A XP_011513189.1:n.-43+1680G>A
XM_017011269.2:c.-43+1680G>A XP_016866758.1:n.-43+1680G>A
NM_001387893.1:c.-43+1680G>A NP_001374822.1:n.-43+1680G>A
NM_001387908.1:c.-43+1680G>A NP_001374837.1:n.-43+1680G>A
NM_001387909.1:c.-99+1680G>A NP_001374838.1:n.-99+1680G>A
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