Canonical Allele Identifier: CA8644235

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 450185
• ClinVar RCV Id: RCV000521165 ; RCV002329239 ; RCV000765368 ; RCV000792484
• dbSNP Id: rs146035171
• ExAC: 17:48263191 C / T
• gnomAD v2: 17-48263191-C-T
• gnomAD v3: 17-50185830-C-T
• gnomAD v4: 17-50185830-C-T
• MyVariant Identifiers: chr17:g.48263191C>T (hg19) ; chr17:g.50185830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185830C>T , CM000679.2:g.50185830C>T	GRCh38
NC_000017.10:g.48263191C>T , CM000679.1:g.48263191C>T	GRCh37
NC_000017.9:g.45618190C>T	NCBI36
NG_007400.1:g.20810G>A , LRG_1:g.20810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4196G>A MANE Select	ENSP00000225964.6:p.Arg1399His
ENST00000225964.9:c.4196G>A	ENSP00000225964.5:p.Arg1399His
NM_000088.3:c.4196G>A , LRG_1t1:c.4196G>A	NP_000079.2:p.Arg1399His
XM_005257058.3:c.3926G>A	XP_005257115.2:p.Arg1309His
XM_005257059.3:c.3278G>A	XP_005257116.2:p.Arg1093His
XM_011524341.1:c.3998G>A	XP_011522643.1:p.Arg1333His
XM_005257058.4:c.3926G>A	XP_005257115.2:p.Arg1309His
XM_005257059.4:c.3278G>A	XP_005257116.2:p.Arg1093His
NM_000088.4:c.4196G>A MANE Select	NP_000079.2:p.Arg1399His