Canonical Allele Identifier: CA349845300
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1247649051
gnomAD v3: 2-189006976-T-G
gnomAD v4: 2-189006976-T-G
MyVariant Identifiers: chr2:g.189871702T>G (hg19) chr2:g.189006976T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006976T>G , CM000664.2:g.189006976T>G GRCh38
NC_000002.11:g.189871702T>G , CM000664.1:g.189871702T>G GRCh37
NC_000002.10:g.189579947T>G NCBI36
NG_007404.1:g.37604T>G , LRG_3:g.37604T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3142T>G ENSP00000415346.2:p.Ser1048Ala
ENST00000304636.9:c.3241T>G MANE Select ENSP00000304408.4:p.Ser1081Ala
ENST00000304636.7:c.3241T>G ENSP00000304408.3:p.Ser1081Ala
ENST00000317840.9:c.2528-1078T>G ENSP00000315243.6:n.2528-1078T>G
NM_000090.3:c.3241T>G , LRG_3t1:c.3241T>G NP_000081.1:p.Ser1081Ala
NM_000090.4:c.3241T>G MANE Select NP_000081.2:p.Ser1081Ala
Search 100 bp 5'
Search 100 bp 3'