Canonical Allele Identifier: CA2021754
Gene: COL3A1 HGNC NCBI
gnomAD v2:
2:189868441 A / C
gnomAD v3:
2:189003715 A / C
gnomAD v4:
chr2-189003715-A-C
Joint Max Group AF 0.00001883 (NFE)
Genomes Max Group AF 0.00005844 (NFE)
Exomes Max Group AF 0.00001378 (NFE)
ClinVar RCV:
RCV000836087
RCV002067505
ClinVar Variation:
676633
dbSNP:
372917900
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003715A>C , CM000664.2:g.189003715A>C GRCh38
NC_000002.11:g.189868441A>C , CM000664.1:g.189868441A>C GRCh37
NC_000002.10:g.189576686A>C NCBI36
NG_007404.1:g.34343A>C , LRG_3:g.34343A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2509-19A>C ENSP00000415346.2:n.2509-19A>C
ENST00000304636.9:c.2608-19A>C MANE Select ENSP00000304408.4:n.2608-19A>C
ENST00000304636.7:c.2608-19A>C ENSP00000304408.3:n.2608-19A>C
ENST00000317840.9:c.2527+679A>C ENSP00000315243.6:n.2527+679A>C
ENST00000467886.1:n.43-19A>C
NM_000090.3:c.2608-19A>C , LRG_3t1:c.2608-19A>C NP_000081.1:n.2608-19A>C
NM_000090.4:c.2608-19A>C MANE Select NP_000081.2:n.2608-19A>C
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