Canonical Allele Identifier: CA8644754
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50189930G>C
GRCh37 chr17:g.48267291G>C
gnomAD v2:
17:48267291 G / C
gnomAD v3:
17:50189930 G / C
gnomAD v4:
chr17-50189930-G-C
Joint Max Group AF 0.61760747 (AMR)
Genomes Max Group AF 0.58050734 (AMR)
Exomes Max Group AF 0.6277651 (AMR)
ClinVar RCV:
RCV000250190
RCV002057297
ClinVar Variation:
254948
dbSNP:
2075559
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50189930G>C , CM000679.2:g.50189930G>C GRCh38
NC_000017.10:g.48267291G>C , CM000679.1:g.48267291G>C GRCh37
NC_000017.9:g.45622290G>C NCBI36
NG_007400.1:g.16710C>G , LRG_1:g.16710C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.2560-18C>G MANE Select ENSP00000225964.6:n.2560-18C>G
ENST00000225964.9:c.2560-18C>G ENSP00000225964.5:n.2560-18C>G
NM_000088.3:c.2560-18C>G , LRG_1t1:c.2560-18C>G NP_000079.2:n.2560-18C>G
XM_005257058.3:c.2560-18C>G XP_005257115.2:n.2560-18C>G
XM_005257059.3:c.1642-18C>G XP_005257116.2:n.1642-18C>G
XM_011524341.1:c.2362-18C>G XP_011522643.1:n.2362-18C>G
XM_005257058.4:c.2560-18C>G XP_005257115.2:n.2560-18C>G
XM_005257059.4:c.1642-18C>G XP_005257116.2:n.1642-18C>G
NM_000088.4:c.2560-18C>G MANE Select NP_000079.2:n.2560-18C>G
Search 100 bp 5'
Search 100 bp 3'