Canonical Allele Identifier: CA8644166
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1740172
ClinVar RCV Id: RCV002333591
dbSNP Id: rs759080989
ExAC: 17:48262875 G / T
gnomAD v2: 17-48262875-G-T
gnomAD v3: 17-50185514-G-T
gnomAD v4: 17-50185514-G-T
MyVariant Identifiers: chr17:g.48262875G>T (hg19) chr17:g.50185514G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185514G>T , CM000679.2:g.50185514G>T GRCh38
NC_000017.10:g.48262875G>T , CM000679.1:g.48262875G>T GRCh37
NC_000017.9:g.45617874G>T NCBI36
NG_007400.1:g.21126C>A , LRG_1:g.21126C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4383C>A MANE Select ENSP00000225964.6:p.Val1461=
ENST00000225964.9:c.4383C>A ENSP00000225964.5:p.Val1461=
NM_000088.3:c.4383C>A , LRG_1t1:c.4383C>A NP_000079.2:p.Val1461=
XM_005257058.3:c.4113C>A XP_005257115.2:p.Val1371=
XM_005257059.3:c.3465C>A XP_005257116.2:p.Val1155=
XM_011524341.1:c.4185C>A XP_011522643.1:p.Val1395=
XM_005257058.4:c.4113C>A XP_005257115.2:p.Val1371=
XM_005257059.4:c.3465C>A XP_005257116.2:p.Val1155=
NM_000088.4:c.4383C>A MANE Select NP_000079.2:p.Val1461=
Search 100 bp 5'
Search 100 bp 3'