Canonical Allele Identifier: CA8644249
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 662240
ClinVar RCV Id: RCV000819846 RCV002332698 RCV003482319 RCV004549897
dbSNP Id: rs768808806
ExAC: 17:48263219 G / A
gnomAD v2: 17-48263219-G-A
gnomAD v3: 17-50185858-G-A
gnomAD v4: 17-50185858-G-A
MyVariant Identifiers: chr17:g.48263219G>A (hg19) chr17:g.50185858G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185858G>A , CM000679.2:g.50185858G>A GRCh38
NC_000017.10:g.48263219G>A , CM000679.1:g.48263219G>A GRCh37
NC_000017.9:g.45618218G>A NCBI36
NG_007400.1:g.20782C>T , LRG_1:g.20782C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4168C>T MANE Select ENSP00000225964.6:p.Leu1390Phe
ENST00000225964.9:c.4168C>T ENSP00000225964.5:p.Leu1390Phe
ENST00000510710.3:n.1133C>T
NM_000088.3:c.4168C>T , LRG_1t1:c.4168C>T NP_000079.2:p.Leu1390Phe
XM_005257058.3:c.3898C>T XP_005257115.2:p.Leu1300Phe
XM_005257059.3:c.3250C>T XP_005257116.2:p.Leu1084Phe
XM_011524341.1:c.3970C>T XP_011522643.1:p.Leu1324Phe
XM_005257058.4:c.3898C>T XP_005257115.2:p.Leu1300Phe
XM_005257059.4:c.3250C>T XP_005257116.2:p.Leu1084Phe
NM_000088.4:c.4168C>T MANE Select NP_000079.2:p.Leu1390Phe
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