Canonical Allele Identifier: CA538484842
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1349627162
gnomAD v2: 2-189872718-C-T
gnomAD v3: 2-189007992-C-T
gnomAD v4: 2-189007992-C-T
MyVariant Identifiers: chr2:g.189872718C>T (hg19) chr2:g.189007992C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007992C>T , CM000664.2:g.189007992C>T GRCh38
NC_000002.11:g.189872718C>T , CM000664.1:g.189872718C>T GRCh37
NC_000002.10:g.189580963C>T NCBI36
NG_007404.1:g.38620C>T , LRG_3:g.38620C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3319-43C>T ENSP00000415346.2:n.3319-43C>T
ENST00000304636.9:c.3418-43C>T MANE Select ENSP00000304408.4:n.3418-43C>T
ENST00000304636.7:c.3418-43C>T ENSP00000304408.3:n.3418-43C>T
ENST00000317840.9:c.2528-62C>T ENSP00000315243.6:n.2528-62C>T
NM_000090.3:c.3418-43C>T , LRG_3t1:c.3418-43C>T NP_000081.1:n.3418-43C>T
NM_000090.4:c.3418-43C>T MANE Select NP_000081.2:n.3418-43C>T
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