Canonical Allele Identifier: CA349844807

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189005420-C-T
• MyVariant Identifiers: chr2:g.189870146C>T (hg19) ; chr2:g.189005420C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189005420C>T , CM000664.2:g.189005420C>T	GRCh38
NC_000002.11:g.189870146C>T , CM000664.1:g.189870146C>T	GRCh37
NC_000002.10:g.189578391C>T	NCBI36
NG_007404.1:g.36048C>T , LRG_3:g.36048C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.2903C>T	ENSP00000415346.2:p.Pro968Leu
ENST00000304636.9:c.3002C>T MANE Select	ENSP00000304408.4:p.Pro1001Leu
ENST00000304636.7:c.3002C>T	ENSP00000304408.3:p.Pro1001Leu
ENST00000317840.9:c.2527+2384C>T	ENSP00000315243.6:n.2527+2384C>T
NM_000090.3:c.3002C>T , LRG_3t1:c.3002C>T	NP_000081.1:p.Pro1001Leu
NM_000090.4:c.3002C>T MANE Select	NP_000081.2:p.Pro1001Leu