Canonical Allele Identifier: CA430313318
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189872297A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007571A>T , CM000664.2:g.189007571A>T GRCh38
NC_000002.11:g.189872297A>T , CM000664.1:g.189872297A>T GRCh37
NC_000002.10:g.189580542A>T NCBI36
NG_007404.1:g.38199A>T , LRG_3:g.38199A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3228A>T ENSP00000415346.2:p.Arg1076=
ENST00000304636.9:c.3327A>T MANE Select ENSP00000304408.4:p.Arg1109=
ENST00000304636.7:c.3327A>T ENSP00000304408.3:p.Arg1109=
ENST00000317840.9:c.2528-483A>T ENSP00000315243.6:n.2528-483A>T
NM_000090.3:c.3327A>T , LRG_3t1:c.3327A>T NP_000081.1:p.Arg1109=
NM_000090.4:c.3327A>T MANE Select NP_000081.2:p.Arg1109=