Canonical Allele Identifier: CA349851041
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189858165G>C (hg19) chr2:g.188993439G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993439G>C , CM000664.2:g.188993439G>C GRCh38
NC_000002.11:g.189858165G>C , CM000664.1:g.189858165G>C GRCh37
NC_000002.10:g.189566410G>C NCBI36
NG_007404.1:g.24067G>C , LRG_3:g.24067G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1050+499G>C ENSP00000415346.2:n.1050+499G>C
ENST00000304636.9:c.1129G>C MANE Select ENSP00000304408.4:p.Ala377Pro
ENST00000304636.7:c.1129G>C ENSP00000304408.3:p.Ala377Pro
ENST00000317840.9:c.1129G>C ENSP00000315243.6:p.Ala377Pro
ENST00000450867.1:c.148+499G>C
NM_000090.3:c.1129G>C , LRG_3t1:c.1129G>C NP_000081.1:p.Ala377Pro
NM_000090.4:c.1129G>C MANE Select NP_000081.2:p.Ala377Pro
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