Canonical Allele Identifier: CA388662346
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822930C>A (hg19) chr13:g.110170583C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170583C>A , CM000675.2:g.110170583C>A GRCh38
NC_000013.10:g.110822930C>A , CM000675.1:g.110822930C>A GRCh37
NC_000013.9:g.109620931C>A NCBI36
NG_011544.2:g.141567G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3706G>T MANE Select ENSP00000364979.4:p.Gly1236Ter
ENST00000375820.8:c.3706G>T ENSP00000364979.4:p.Gly1236Ter
NM_001845.5:c.3706G>T NP_001836.3:p.Gly1236Ter
XM_011521048.1:c.3514G>T XP_011519350.1:p.Gly1172Ter
XM_011521048.2:c.3514G>T XP_011519350.1:p.Gly1172Ter
NM_001845.6:c.3706G>T MANE Select NP_001836.3:p.Gly1236Ter
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