Canonical Allele Identifier: CA15902774
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50196930T>G
GRCh37 chr17:g.48274291T>G
gnomAD v2:
17:48274291 T / G
gnomAD v3:
17:50196930 T / G
gnomAD v4:
chr17-50196930-T-G
Joint Max Group AF 0.86835629 (NFE)
Genomes Max Group AF 0.8592334 (NFE)
Exomes Max Group AF 0.86862103 (NFE)
ClinVar RCV:
RCV000834306
ClinVar Variation:
674977
dbSNP:
2075555
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196930T>G , CM000679.2:g.50196930T>G GRCh38
NC_000017.10:g.48274291T>G , CM000679.1:g.48274291T>G GRCh37
NC_000017.9:g.45629290T>G NCBI36
NG_007400.1:g.9710A>C , LRG_1:g.9710A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.804+80A>C MANE Select ENSP00000225964.6:n.804+80A>C
ENST00000225964.9:c.804+80A>C ENSP00000225964.5:n.804+80A>C
ENST00000495677.1:n.531+80A>C
NM_000088.3:c.804+80A>C , LRG_1t1:c.804+80A>C NP_000079.2:n.804+80A>C
XM_005257058.3:c.804+80A>C XP_005257115.2:n.804+80A>C
XM_005257059.3:c.804+80A>C XP_005257116.2:n.804+80A>C
XM_011524341.1:c.804+80A>C XP_011522643.1:n.804+80A>C
XM_005257058.4:c.804+80A>C XP_005257115.2:n.804+80A>C
XM_005257059.4:c.804+80A>C XP_005257116.2:n.804+80A>C
NM_000088.4:c.804+80A>C MANE Select NP_000079.2:n.804+80A>C
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