Canonical Allele Identifier: CA349851636
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1184576895
gnomAD v3: 2-188994553-A-G
gnomAD v4: 2-188994553-A-G
MyVariant Identifiers: chr2:g.189859279A>G (hg19) chr2:g.188994553A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994553A>G , CM000664.2:g.188994553A>G GRCh38
NC_000002.11:g.189859279A>G , CM000664.1:g.189859279A>G GRCh37
NC_000002.10:g.189567524A>G NCBI36
NG_007404.1:g.25181A>G , LRG_3:g.25181A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1207A>G ENSP00000415346.2:p.Lys403Glu
ENST00000304636.9:c.1306A>G MANE Select ENSP00000304408.4:p.Lys436Glu
ENST00000304636.7:c.1306A>G ENSP00000304408.3:p.Lys436Glu
ENST00000317840.9:c.1306A>G ENSP00000315243.6:p.Lys436Glu
NM_000090.3:c.1306A>G , LRG_3t1:c.1306A>G NP_000081.1:p.Lys436Glu
NM_000090.4:c.1306A>G MANE Select NP_000081.2:p.Lys436Glu
Search 100 bp 5'
Search 100 bp 3'