Canonical Allele Identifier: CA14380602
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50196103T>C
GRCh37 chr17:g.48273464T>C
gnomAD v2:
17:48273464 T / C
gnomAD v3:
17:50196103 T / C
gnomAD v4:
chr17-50196103-T-C
Joint Max Group AF 0.9388026 (AFR)
Genomes Max Group AF 0.93368783 (AFR)
Exomes Max Group AF 0.93977414 (AFR)
ClinVar RCV:
RCV000834127
ClinVar Variation:
674801
dbSNP:
2141279
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196103T>C , CM000679.2:g.50196103T>C GRCh38
NC_000017.10:g.48273464T>C , CM000679.1:g.48273464T>C GRCh37
NC_000017.9:g.45628463T>C NCBI36
NG_007400.1:g.10537A>G , LRG_1:g.10537A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1002+52A>G MANE Select ENSP00000225964.6:n.1002+52A>G
ENST00000225964.9:c.1002+52A>G ENSP00000225964.5:n.1002+52A>G
ENST00000485870.1:n.379A>G
NM_000088.3:c.1002+52A>G , LRG_1t1:c.1002+52A>G NP_000079.2:n.1002+52A>G
XM_005257058.3:c.1002+52A>G XP_005257115.2:n.1002+52A>G
XM_005257059.3:c.957+211A>G XP_005257116.2:n.957+211A>G
XM_011524341.1:c.957+211A>G XP_011522643.1:n.957+211A>G
XM_005257058.4:c.1002+52A>G XP_005257115.2:n.1002+52A>G
XM_005257059.4:c.957+211A>G XP_005257116.2:n.957+211A>G
NM_000088.4:c.1002+52A>G MANE Select NP_000079.2:n.1002+52A>G
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