Canonical Allele Identifier: CA8645552

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 391380
• ClinVar RCV Id: RCV000426811
• dbSNP Id: rs769689009
• ExAC: 17:48274374 G / A
• gnomAD v2: 17-48274374-G-A
• gnomAD v3: 17-50197013-G-A
• gnomAD v4: 17-50197013-G-A
• MyVariant Identifiers: chr17:g.48274374G>A (hg19) ; chr17:g.50197013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197013G>A , CM000679.2:g.50197013G>A	GRCh38
NC_000017.10:g.48274374G>A , CM000679.1:g.48274374G>A	GRCh37
NC_000017.9:g.45629373G>A	NCBI36
NG_007400.1:g.9627C>T , LRG_1:g.9627C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.801C>T MANE Select	ENSP00000225964.6:p.His267=
ENST00000225964.9:c.801C>T	ENSP00000225964.5:p.His267=
ENST00000495677.1:n.528C>T
NM_000088.3:c.801C>T , LRG_1t1:c.801C>T	NP_000079.2:p.His267=
XM_005257058.3:c.801C>T	XP_005257115.2:p.His267=
XM_005257059.3:c.801C>T	XP_005257116.2:p.His267=
XM_011524341.1:c.801C>T	XP_011522643.1:p.His267=
XM_005257058.4:c.801C>T	XP_005257115.2:p.His267=
XM_005257059.4:c.801C>T	XP_005257116.2:p.His267=
NM_000088.4:c.801C>T MANE Select	NP_000079.2:p.His267=