Canonical Allele Identifier: CA388661757
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822013G>T (hg19) chr13:g.110169666G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169666G>T , CM000675.2:g.110169666G>T GRCh38
NC_000013.10:g.110822013G>T , CM000675.1:g.110822013G>T GRCh37
NC_000013.9:g.109620014G>T NCBI36
NG_011544.2:g.142484C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3839C>A MANE Select ENSP00000364979.4:p.Pro1280Gln
ENST00000375820.8:c.3839C>A ENSP00000364979.4:p.Pro1280Gln
NM_001845.5:c.3839C>A NP_001836.3:p.Pro1280Gln
XM_011521048.1:c.3647C>A XP_011519350.1:p.Pro1216Gln
XM_011521048.2:c.3647C>A XP_011519350.1:p.Pro1216Gln
NM_001845.6:c.3839C>A MANE Select NP_001836.3:p.Pro1280Gln
Search 100 bp 5'
Search 100 bp 3'