Canonical Allele Identifier: CA8645395
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2906977
ClinVar RCV Id: RCV003632729
dbSNP Id: rs144889918
ExAC: 17:48272976 C / T
gnomAD v2: 17-48272976-C-T
gnomAD v3: 17-50195615-C-T
gnomAD v4: 17-50195615-C-T
MyVariant Identifiers: chr17:g.48272976C>T (hg19) chr17:g.50195615C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195615C>T , CM000679.2:g.50195615C>T GRCh38
NC_000017.10:g.48272976C>T , CM000679.1:g.48272976C>T GRCh37
NC_000017.9:g.45627975C>T NCBI36
NG_007400.1:g.11025G>A , LRG_1:g.11025G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1107G>A MANE Select ENSP00000225964.6:p.Val369=
ENST00000225964.9:c.1107G>A ENSP00000225964.5:p.Val369=
ENST00000471344.1:n.51G>A
NM_000088.3:c.1107G>A , LRG_1t1:c.1107G>A NP_000079.2:p.Val369=
XM_005257058.3:c.1107G>A XP_005257115.2:p.Val369=
XM_005257059.3:c.957+699G>A XP_005257116.2:n.957+699G>A
XM_011524341.1:c.958-137G>A XP_011522643.1:n.958-137G>A
XM_005257058.4:c.1107G>A XP_005257115.2:p.Val369=
XM_005257059.4:c.957+699G>A XP_005257116.2:n.957+699G>A
NM_000088.4:c.1107G>A MANE Select NP_000079.2:p.Val369=
Search 100 bp 5'
Search 100 bp 3'