Canonical Allele Identifier: CA8645697

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 507570
• ClinVar RCV Id: RCV001697354 ; RCV002062966
• dbSNP Id: rs774281966
• ExAC: 17:48276573 G / C
• gnomAD v2: 17-48276573-G-C
• gnomAD v3: 17-50199212-G-C
• gnomAD v4: 17-50199212-G-C
• MyVariant Identifiers: chr17:g.48276573G>C (hg19) ; chr17:g.50199212G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199212G>C , CM000679.2:g.50199212G>C	GRCh38
NC_000017.10:g.48276573G>C , CM000679.1:g.48276573G>C	GRCh37
NC_000017.9:g.45631572G>C	NCBI36
NG_007400.1:g.7428C>G , LRG_1:g.7428C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+14C>G MANE Select	ENSP00000225964.6:n.471+14C>G
ENST00000225964.9:c.471+14C>G	ENSP00000225964.5:n.471+14C>G
NM_000088.3:c.471+14C>G , LRG_1t1:c.471+14C>G	NP_000079.2:n.471+14C>G
XM_005257058.3:c.471+14C>G	XP_005257115.2:n.471+14C>G
XM_005257059.3:c.471+14C>G	XP_005257116.2:n.471+14C>G
XM_011524341.1:c.471+14C>G	XP_011522643.1:n.471+14C>G
XM_005257058.4:c.471+14C>G	XP_005257115.2:n.471+14C>G
XM_005257059.4:c.471+14C>G	XP_005257116.2:n.471+14C>G
NM_000088.4:c.471+14C>G MANE Select	NP_000079.2:n.471+14C>G