Canonical Allele Identifier: CA8644237

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1399083
• ClinVar RCV Id: RCV001922724
• dbSNP Id: rs754481870
• ExAC: 17:48263195 T / A
• gnomAD v2: 17-48263195-T-A
• gnomAD v4: 17-50185834-T-A
• MyVariant Identifiers: chr17:g.48263195T>A (hg19) ; chr17:g.50185834T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185834T>A , CM000679.2:g.50185834T>A	GRCh38
NC_000017.10:g.48263195T>A , CM000679.1:g.48263195T>A	GRCh37
NC_000017.9:g.45618194T>A	NCBI36
NG_007400.1:g.20806A>T , LRG_1:g.20806A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4192A>T MANE Select	ENSP00000225964.6:p.Ile1398Phe
ENST00000225964.9:c.4192A>T	ENSP00000225964.5:p.Ile1398Phe
NM_000088.3:c.4192A>T , LRG_1t1:c.4192A>T	NP_000079.2:p.Ile1398Phe
XM_005257058.3:c.3922A>T	XP_005257115.2:p.Ile1308Phe
XM_005257059.3:c.3274A>T	XP_005257116.2:p.Ile1092Phe
XM_011524341.1:c.3994A>T	XP_011522643.1:p.Ile1332Phe
XM_005257058.4:c.3922A>T	XP_005257115.2:p.Ile1308Phe
XM_005257059.4:c.3274A>T	XP_005257116.2:p.Ile1092Phe
NM_000088.4:c.4192A>T MANE Select	NP_000079.2:p.Ile1398Phe