Canonical Allele Identifier: CA484788618
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110166287-A-G
MyVariant Identifiers: chr13:g.110818634A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166287A>G , CM000675.2:g.110166287A>G GRCh38
NC_000013.10:g.110818634A>G , CM000675.1:g.110818634A>G GRCh37
NC_000013.9:g.109616635A>G NCBI36
NG_011544.2:g.145863T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3966T>C MANE Select ENSP00000364979.4:p.Pro1322=
ENST00000650424.1:c.122T>C
ENST00000375820.8:c.3966T>C ENSP00000364979.4:p.Pro1322=
NM_001845.5:c.3966T>C NP_001836.3:p.Pro1322=
XM_011521048.1:c.3774T>C XP_011519350.1:p.Pro1258=
XM_011521048.2:c.3774T>C XP_011519350.1:p.Pro1258=
NM_001845.6:c.3966T>C MANE Select NP_001836.3:p.Pro1322=
Search 100 bp 5'
Search 100 bp 3'