Canonical Allele Identifier: CA349844991

Gene: COL3A1

Linked Data

• MyVariant Identifiers: chr2:g.189870983A>T (hg19) ; chr2:g.189006257A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189006257A>T , CM000664.2:g.189006257A>T	GRCh38
NC_000002.11:g.189870983A>T , CM000664.1:g.189870983A>T	GRCh37
NC_000002.10:g.189579228A>T	NCBI36
NG_007404.1:g.36885A>T , LRG_3:g.36885A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.2992A>T	ENSP00000415346.2:p.Lys998Ter
ENST00000304636.9:c.3091A>T MANE Select	ENSP00000304408.4:p.Lys1031Ter
ENST00000304636.7:c.3091A>T	ENSP00000304408.3:p.Lys1031Ter
ENST00000317840.9:c.2528-1797A>T	ENSP00000315243.6:n.2528-1797A>T
NM_000090.3:c.3091A>T , LRG_3t1:c.3091A>T	NP_000081.1:p.Lys1031Ter
NM_000090.4:c.3091A>T MANE Select	NP_000081.2:p.Lys1031Ter