Canonical Allele Identifier: CA8645764
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50199599C>A
GRCh37 chr17:g.48276960C>A
gnomAD v2:
17:48276960 C / A
gnomAD v3:
17:50199599 C / A
gnomAD v4:
chr17-50199599-C-A
Joint Max Group AF 0.0000884 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00008939 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199599C>A , CM000679.2:g.50199599C>A GRCh38
NC_000017.10:g.48276960C>A , CM000679.1:g.48276960C>A GRCh37
NC_000017.9:g.45631959C>A NCBI36
NG_007400.1:g.7041G>T , LRG_1:g.7041G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.299-9G>T MANE Select ENSP00000225964.6:n.299-9G>T
ENST00000225964.9:c.299-9G>T ENSP00000225964.5:n.299-9G>T
ENST00000474644.1:n.418-9G>T
ENST00000507689.1:c.353-9G>T ENSP00000460459.1:n.353-9G>T
NM_000088.3:c.299-9G>T , LRG_1t1:c.299-9G>T NP_000079.2:n.299-9G>T
XM_005257058.3:c.299-9G>T XP_005257115.2:n.299-9G>T
XM_005257059.3:c.299-9G>T XP_005257116.2:n.299-9G>T
XM_011524341.1:c.299-9G>T XP_011522643.1:n.299-9G>T
XM_005257058.4:c.299-9G>T XP_005257115.2:n.299-9G>T
XM_005257059.4:c.299-9G>T XP_005257116.2:n.299-9G>T
NM_000088.4:c.299-9G>T MANE Select NP_000079.2:n.299-9G>T
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