Canonical Allele Identifier: CA10640064
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324096
ClinVar RCV Id: RCV000265415 RCV000320492 RCV000364673
dbSNP Id: rs886053159
gnomAD v2: 17-48263247-C-G
gnomAD v4: 17-50185886-C-G
MyVariant Identifiers: chr17:g.48263247C>G (hg19) chr17:g.50185886C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185886C>G , CM000679.2:g.50185886C>G GRCh38
NC_000017.10:g.48263247C>G , CM000679.1:g.48263247C>G GRCh37
NC_000017.9:g.45618246C>G NCBI36
NG_007400.1:g.20754G>C , LRG_1:g.20754G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4140G>C MANE Select ENSP00000225964.6:p.Gln1380His
ENST00000225964.9:c.4140G>C ENSP00000225964.5:p.Gln1380His
ENST00000510710.3:n.1105G>C
NM_000088.3:c.4140G>C , LRG_1t1:c.4140G>C NP_000079.2:p.Gln1380His
XM_005257058.3:c.3870G>C XP_005257115.2:p.Gln1290His
XM_005257059.3:c.3222G>C XP_005257116.2:p.Gln1074His
XM_011524341.1:c.3942G>C XP_011522643.1:p.Gln1314His
XM_005257058.4:c.3870G>C XP_005257115.2:p.Gln1290His
XM_005257059.4:c.3222G>C XP_005257116.2:p.Gln1074His
NM_000088.4:c.4140G>C MANE Select NP_000079.2:p.Gln1380His
Search 100 bp 5'
Search 100 bp 3'