Canonical Allele Identifier: CA349843919
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 925310
ClinVar RCV Id: RCV001187183
dbSNP Id: rs1688530290
MyVariant Identifiers: chr2:g.189868766C>T (hg19) chr2:g.189004040C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004040C>T , CM000664.2:g.189004040C>T GRCh38
NC_000002.11:g.189868766C>T , CM000664.1:g.189868766C>T GRCh37
NC_000002.10:g.189577011C>T NCBI36
NG_007404.1:g.34668C>T , LRG_3:g.34668C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2621C>T ENSP00000415346.2:p.Pro874Leu
ENST00000304636.9:c.2720C>T MANE Select ENSP00000304408.4:p.Pro907Leu
ENST00000304636.7:c.2720C>T ENSP00000304408.3:p.Pro907Leu
ENST00000317840.9:c.2527+1004C>T ENSP00000315243.6:n.2527+1004C>T
NM_000090.3:c.2720C>T , LRG_3t1:c.2720C>T NP_000081.1:p.Pro907Leu
NM_000090.4:c.2720C>T MANE Select NP_000081.2:p.Pro907Leu
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