Canonical Allele Identifier: CA349852043

Gene: COL3A1

Linked Data

• MyVariant Identifiers: chr2:g.189859811A>T (hg19) ; chr2:g.188995085A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188995085A>T , CM000664.2:g.188995085A>T	GRCh38
NC_000002.11:g.189859811A>T , CM000664.1:g.189859811A>T	GRCh37
NC_000002.10:g.189568056A>T	NCBI36
NG_007404.1:g.25713A>T , LRG_3:g.25713A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.1396A>T	ENSP00000415346.2:p.Ile466Phe
ENST00000304636.9:c.1495A>T MANE Select	ENSP00000304408.4:p.Ile499Phe
ENST00000304636.7:c.1495A>T	ENSP00000304408.3:p.Ile499Phe
ENST00000317840.9:c.1495A>T	ENSP00000315243.6:p.Ile499Phe
NM_000090.3:c.1495A>T , LRG_3t1:c.1495A>T	NP_000081.1:p.Ile499Phe
NM_000090.4:c.1495A>T MANE Select	NP_000081.2:p.Ile499Phe