Canonical Allele Identifier: CA8644376
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426558
ClinVar RCV Id: RCV001712452 RCV002455947 RCV003488631 RCV003960137
dbSNP Id: rs543809032
ExAC: 17:48264135 C / T
gnomAD v2: 17-48264135-C-T
gnomAD v3: 17-50186774-C-T
gnomAD v4: 17-50186774-C-T
COSMIC: COSM2698917
MyVariant Identifiers: chr17:g.48264135C>T (hg19) chr17:g.50186774C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50186774C>T , CM000679.2:g.50186774C>T GRCh38
NC_000017.10:g.48264135C>T , CM000679.1:g.48264135C>T GRCh37
NC_000017.9:g.45619134C>T NCBI36
NG_007400.1:g.19866G>A , LRG_1:g.19866G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.3680G>A MANE Select ENSP00000225964.6:p.Arg1227His
ENST00000225964.9:c.3680G>A ENSP00000225964.5:p.Arg1227His
ENST00000510710.3:n.349G>A
NM_000088.3:c.3680G>A , LRG_1t1:c.3680G>A NP_000079.2:p.Arg1227His
XM_005257058.3:c.3410G>A XP_005257115.2:p.Arg1137His
XM_005257059.3:c.2762G>A XP_005257116.2:p.Arg921His
XM_011524341.1:c.3482G>A XP_011522643.1:p.Arg1161His
XM_005257058.4:c.3410G>A XP_005257115.2:p.Arg1137His
XM_005257059.4:c.2762G>A XP_005257116.2:p.Arg921His
NM_000088.4:c.3680G>A MANE Select NP_000079.2:p.Arg1227His
Search 100 bp 5'
Search 100 bp 3'