Canonical Allele Identifier: CA14422358
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50195794A>C
GRCh37 chr17:g.48273155A>C
gnomAD v2:
17:48273155 A / C
gnomAD v3:
17:50195794 A / C
gnomAD v4:
chr17-50195794-A-C
Joint Max Group AF 0.87231112 (NFE)
Genomes Max Group AF 0.86375505 (NFE)
Exomes Max Group AF 0.87257952 (NFE)
ClinVar RCV:
RCV001667422
ClinVar Variation:
1262303
dbSNP:
2586494
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195794A>C , CM000679.2:g.50195794A>C GRCh38
NC_000017.10:g.48273155A>C , CM000679.1:g.48273155A>C GRCh37
NC_000017.9:g.45628154A>C NCBI36
NG_007400.1:g.10846T>G , LRG_1:g.10846T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1057-129T>G MANE Select ENSP00000225964.6:n.1057-129T>G
ENST00000225964.9:c.1057-129T>G ENSP00000225964.5:n.1057-129T>G
NM_000088.3:c.1057-129T>G , LRG_1t1:c.1057-129T>G NP_000079.2:n.1057-129T>G
XM_005257058.3:c.1057-129T>G XP_005257115.2:n.1057-129T>G
XM_005257059.3:c.957+520T>G XP_005257116.2:n.957+520T>G
XM_011524341.1:c.958-316T>G XP_011522643.1:n.958-316T>G
XM_005257058.4:c.1057-129T>G XP_005257115.2:n.1057-129T>G
XM_005257059.4:c.957+520T>G XP_005257116.2:n.957+520T>G
NM_000088.4:c.1057-129T>G MANE Select NP_000079.2:n.1057-129T>G
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