Canonical Allele Identifier: CA8645046

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 679029
• ClinVar RCV Id: RCV000838666
• dbSNP Id: rs41316671
• ExAC: 17:48270117 C / G
• gnomAD v2: 17-48270117-C-G
• gnomAD v3: 17-50192756-C-G
• gnomAD v4: 17-50192756-C-G
• MyVariant Identifiers: chr17:g.48270117C>G (hg19) ; chr17:g.50192756C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192756C>G , CM000679.2:g.50192756C>G	GRCh38
NC_000017.10:g.48270117C>G , CM000679.1:g.48270117C>G	GRCh37
NC_000017.9:g.45625116C>G	NCBI36
NG_007400.1:g.13884G>C , LRG_1:g.13884G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1875+41G>C MANE Select	ENSP00000225964.6:n.1875+41G>C
ENST00000225964.9:c.1875+41G>C	ENSP00000225964.5:n.1875+41G>C
ENST00000476387.1:n.224+41G>C
NM_000088.3:c.1875+41G>C , LRG_1t1:c.1875+41G>C	NP_000079.2:n.1875+41G>C
XM_005257058.3:c.1875+41G>C	XP_005257115.2:n.1875+41G>C
XM_005257059.3:c.958-63G>C	XP_005257116.2:n.958-63G>C
XM_011524341.1:c.1677+41G>C	XP_011522643.1:n.1677+41G>C
XM_005257058.4:c.1875+41G>C	XP_005257115.2:n.1875+41G>C
XM_005257059.4:c.958-63G>C	XP_005257116.2:n.958-63G>C
NM_000088.4:c.1875+41G>C MANE Select	NP_000079.2:n.1875+41G>C