Canonical Allele Identifier: CA8644255
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383766
ClinVar RCV Id: RCV000423865 RCV000710772 RCV001084116 RCV002278677 RCV002323613
dbSNP Id: rs41316723
ExAC: 17:48263274 C / T
gnomAD v2: 17-48263274-C-T
gnomAD v3: 17-50185913-C-T
gnomAD v4: 17-50185913-C-T
MyVariant Identifiers: chr17:g.48263274C>T (hg19) chr17:g.50185913C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185913C>T , CM000679.2:g.50185913C>T GRCh38
NC_000017.10:g.48263274C>T , CM000679.1:g.48263274C>T GRCh37
NC_000017.9:g.45618273C>T NCBI36
NG_007400.1:g.20727G>A , LRG_1:g.20727G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4113G>A MANE Select ENSP00000225964.6:p.Lys1371=
ENST00000225964.9:c.4113G>A ENSP00000225964.5:p.Lys1371=
ENST00000510710.3:n.1078G>A
NM_000088.3:c.4113G>A , LRG_1t1:c.4113G>A NP_000079.2:p.Lys1371=
XM_005257058.3:c.3843G>A XP_005257115.2:p.Lys1281=
XM_005257059.3:c.3195G>A XP_005257116.2:p.Lys1065=
XM_011524341.1:c.3915G>A XP_011522643.1:p.Lys1305=
XM_005257058.4:c.3843G>A XP_005257115.2:p.Lys1281=
XM_005257059.4:c.3195G>A XP_005257116.2:p.Lys1065=
NM_000088.4:c.4113G>A MANE Select NP_000079.2:p.Lys1371=
Search 100 bp 5'
Search 100 bp 3'