Canonical Allele Identifier: CA8644438
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50187128G>T
GRCh37 chr17:g.48264489G>T
gnomAD v2:
17:48264489 G / T
gnomAD v3:
17:50187128 G / T
gnomAD v4:
chr17-50187128-G-T
Joint Max Group AF 0.00017592 (AMR)
Genomes Max Group AF 0.00011228 (NFE)
Exomes Max Group AF 0.00022173 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50187128G>T , CM000679.2:g.50187128G>T GRCh38
NC_000017.10:g.48264489G>T , CM000679.1:g.48264489G>T GRCh37
NC_000017.9:g.45619488G>T NCBI36
NG_007400.1:g.19512C>A , LRG_1:g.19512C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3424-6C>A MANE Select ENSP00000225964.6:n.3424-6C>A
ENST00000225964.9:c.3424-6C>A ENSP00000225964.5:n.3424-6C>A
NM_000088.3:c.3424-6C>A , LRG_1t1:c.3424-6C>A NP_000079.2:n.3424-6C>A
XM_005257058.3:c.3154-6C>A XP_005257115.2:n.3154-6C>A
XM_005257059.3:c.2506-6C>A XP_005257116.2:n.2506-6C>A
XM_011524341.1:c.3226-6C>A XP_011522643.1:n.3226-6C>A
XM_005257058.4:c.3154-6C>A XP_005257115.2:n.3154-6C>A
XM_005257059.4:c.2506-6C>A XP_005257116.2:n.2506-6C>A
NM_000088.4:c.3424-6C>A MANE Select NP_000079.2:n.3424-6C>A
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