Canonical Allele Identifier: CA349846652
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189873692C>G (hg19) chr2:g.189008966C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008966C>G , CM000664.2:g.189008966C>G GRCh38
NC_000002.11:g.189873692C>G , CM000664.1:g.189873692C>G GRCh37
NC_000002.10:g.189581937C>G NCBI36
NG_007404.1:g.39594C>G , LRG_3:g.39594C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3469C>G ENSP00000415346.2:p.Pro1157Ala
ENST00000304636.9:c.3568C>G MANE Select ENSP00000304408.4:p.Pro1190Ala
ENST00000304636.7:c.3568C>G ENSP00000304408.3:p.Pro1190Ala
ENST00000317840.9:c.2659C>G ENSP00000315243.6:p.Pro887Ala
ENST00000487010.1:n.665C>G
NM_000090.3:c.3568C>G , LRG_3t1:c.3568C>G NP_000081.1:p.Pro1190Ala
NM_000090.4:c.3568C>G MANE Select NP_000081.2:p.Pro1190Ala
Search 100 bp 5'
Search 100 bp 3'