Canonical Allele Identifier: CA400224252

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1686716
• ClinVar RCV Id: RCV002248223
• dbSNP Id: rs1348617517
• gnomAD v3: 17-50197211-C-T
• gnomAD v4: 17-50197211-C-T
• MyVariant Identifiers: chr17:g.48274572C>T (hg19) ; chr17:g.50197211C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197211C>T , CM000679.2:g.50197211C>T	GRCh38
NC_000017.10:g.48274572C>T , CM000679.1:g.48274572C>T	GRCh37
NC_000017.9:g.45629571C>T	NCBI36
NG_007400.1:g.9429G>A , LRG_1:g.9429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.719G>A MANE Select	ENSP00000225964.6:p.Arg240His
ENST00000225964.9:c.719G>A	ENSP00000225964.5:p.Arg240His
ENST00000495677.1:n.446G>A
NM_000088.3:c.719G>A , LRG_1t1:c.719G>A	NP_000079.2:p.Arg240His
XM_005257058.3:c.719G>A	XP_005257115.2:p.Arg240His
XM_005257059.3:c.719G>A	XP_005257116.2:p.Arg240His
XM_011524341.1:c.719G>A	XP_011522643.1:p.Arg240His
XM_005257058.4:c.719G>A	XP_005257115.2:p.Arg240His
XM_005257059.4:c.719G>A	XP_005257116.2:p.Arg240His
NM_000088.4:c.719G>A MANE Select	NP_000079.2:p.Arg240His