Canonical Allele Identifier: CA388662086
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822106A>C (hg19) chr13:g.110169759A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169759A>C , CM000675.2:g.110169759A>C GRCh38
NC_000013.10:g.110822106A>C , CM000675.1:g.110822106A>C GRCh37
NC_000013.9:g.109620107A>C NCBI36
NG_011544.2:g.142391T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3746T>G MANE Select ENSP00000364979.4:p.Leu1249Arg
ENST00000375820.8:c.3746T>G ENSP00000364979.4:p.Leu1249Arg
NM_001845.5:c.3746T>G NP_001836.3:p.Leu1249Arg
XM_011521048.1:c.3554T>G XP_011519350.1:p.Leu1185Arg
XM_011521048.2:c.3554T>G XP_011519350.1:p.Leu1185Arg
NM_001845.6:c.3746T>G MANE Select NP_001836.3:p.Leu1249Arg
Search 100 bp 5'
Search 100 bp 3'