Canonical Allele Identifier: CA349844210
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189868840A>G (hg19) chr2:g.189004114A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004114A>G , CM000664.2:g.189004114A>G GRCh38
NC_000002.11:g.189868840A>G , CM000664.1:g.189868840A>G GRCh37
NC_000002.10:g.189577085A>G NCBI36
NG_007404.1:g.34742A>G , LRG_3:g.34742A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2695A>G ENSP00000415346.2:p.Lys899Glu
ENST00000304636.9:c.2794A>G MANE Select ENSP00000304408.4:p.Lys932Glu
ENST00000304636.7:c.2794A>G ENSP00000304408.3:p.Lys932Glu
ENST00000317840.9:c.2527+1078A>G ENSP00000315243.6:n.2527+1078A>G
NM_000090.3:c.2794A>G , LRG_3t1:c.2794A>G NP_000081.1:p.Lys932Glu
NM_000090.4:c.2794A>G MANE Select NP_000081.2:p.Lys932Glu
Search 100 bp 5'
Search 100 bp 3'