Canonical Allele Identifier: CA62563083
Gene: COL3A1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.189009191C>A
GRCh37 chr2:g.189873917C>A
Revel Score:
ENST00000304636 (MANE Select) 0.691
ENST00000317840 0.691
gnomAD v2:
2:189873917 C / A
gnomAD v3:
2:189009191 C / A
gnomAD v4:
chr2-189009191-C-A
Joint Max Group AF 0.00002394 (NFE)
Exomes Max Group AF 0.00002455 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189009191C>A , CM000664.2:g.189009191C>A GRCh38
NC_000002.11:g.189873917C>A , CM000664.1:g.189873917C>A GRCh37
NC_000002.10:g.189582162C>A NCBI36
NG_007404.1:g.39819C>A , LRG_3:g.39819C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3694C>A ENSP00000415346.2:p.Leu1232Met
ENST00000304636.9:c.3793C>A MANE Select ENSP00000304408.4:p.Leu1265Met
ENST00000304636.7:c.3793C>A ENSP00000304408.3:p.Leu1265Met
ENST00000317840.9:c.2884C>A ENSP00000315243.6:p.Leu962Met
ENST00000487010.1:n.890C>A
NM_000090.3:c.3793C>A , LRG_3t1:c.3793C>A NP_000081.1:p.Leu1265Met
NM_000090.4:c.3793C>A MANE Select NP_000081.2:p.Leu1265Met
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