Canonical Allele Identifier: CA075965
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs376459023
ExAC: 2:189871744 T / A
gnomAD v2: 2-189871744-T-A
gnomAD v3: 2-189007018-T-A
gnomAD v4: 2-189007018-T-A
MyVariant Identifiers: chr2:g.189871744T>A (hg19) chr2:g.189007018T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007018T>A , CM000664.2:g.189007018T>A GRCh38
NC_000002.11:g.189871744T>A , CM000664.1:g.189871744T>A GRCh37
NC_000002.10:g.189579989T>A NCBI36
NG_007404.1:g.37646T>A , LRG_3:g.37646T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3156+28T>A ENSP00000415346.2:n.3156+28T>A
ENST00000304636.9:c.3255+28T>A MANE Select ENSP00000304408.4:n.3255+28T>A
ENST00000304636.7:c.3255+28T>A ENSP00000304408.3:n.3255+28T>A
ENST00000317840.9:c.2528-1036T>A ENSP00000315243.6:n.2528-1036T>A
NM_000090.3:c.3255+28T>A , LRG_3t1:c.3255+28T>A NP_000081.1:n.3255+28T>A
NM_000090.4:c.3255+28T>A MANE Select NP_000081.2:n.3255+28T>A
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