Canonical Allele Identifier: CA8644165
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1166697
ClinVar RCV Id: RCV001515183 RCV001538359 RCV004550287
dbSNP Id: rs577626107
ExAC: 17:48262871 A / G
gnomAD v2: 17-48262871-A-G
gnomAD v3: 17-50185510-A-G
gnomAD v4: 17-50185510-A-G
COSMIC: COSM5981243
MyVariant Identifiers: chr17:g.48262871A>G (hg19) chr17:g.50185510A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185510A>G , CM000679.2:g.50185510A>G GRCh38
NC_000017.10:g.48262871A>G , CM000679.1:g.48262871A>G GRCh37
NC_000017.9:g.45617870A>G NCBI36
NG_007400.1:g.21130T>C , LRG_1:g.21130T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4387T>C MANE Select ENSP00000225964.6:p.Phe1463Leu
ENST00000225964.9:c.4387T>C ENSP00000225964.5:p.Phe1463Leu
NM_000088.3:c.4387T>C , LRG_1t1:c.4387T>C NP_000079.2:p.Phe1463Leu
XM_005257058.3:c.4117T>C XP_005257115.2:p.Phe1373Leu
XM_005257059.3:c.3469T>C XP_005257116.2:p.Phe1157Leu
XM_011524341.1:c.4189T>C XP_011522643.1:p.Phe1397Leu
XM_005257058.4:c.4117T>C XP_005257115.2:p.Phe1373Leu
XM_005257059.4:c.3469T>C XP_005257116.2:p.Phe1157Leu
NM_000088.4:c.4387T>C MANE Select NP_000079.2:p.Phe1463Leu
Search 100 bp 5'
Search 100 bp 3'