Canonical Allele Identifier: CA8644613
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50188900C>T
GRCh37 chr17:g.48266261C>T
gnomAD v2:
17:48266261 C / T
gnomAD v3:
17:50188900 C / T
gnomAD v4:
chr17-50188900-C-T
Joint Max Group AF 0.0011449 (MID)
Genomes Max Group AF 0.00005301 (AMR)
Exomes Max Group AF 0.00120691 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188900C>T , CM000679.2:g.50188900C>T GRCh38
NC_000017.10:g.48266261C>T , CM000679.1:g.48266261C>T GRCh37
NC_000017.9:g.45621260C>T NCBI36
NG_007400.1:g.17740G>A , LRG_1:g.17740G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3045+3G>A MANE Select ENSP00000225964.6:n.3045+3G>A
ENST00000225964.9:c.3045+3G>A ENSP00000225964.5:n.3045+3G>A
NM_000088.3:c.3045+3G>A , LRG_1t1:c.3045+3G>A NP_000079.2:n.3045+3G>A
XM_005257058.3:c.2775+3G>A XP_005257115.2:n.2775+3G>A
XM_005257059.3:c.2127+3G>A XP_005257116.2:n.2127+3G>A
XM_011524341.1:c.2847+3G>A XP_011522643.1:n.2847+3G>A
XM_005257058.4:c.2775+3G>A XP_005257115.2:n.2775+3G>A
XM_005257059.4:c.2127+3G>A XP_005257116.2:n.2127+3G>A
NM_000088.4:c.3045+3G>A MANE Select NP_000079.2:n.3045+3G>A
Search 100 bp 5'
Search 100 bp 3'