Canonical Allele Identifier: CA388662276
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822912C>T (hg19) chr13:g.110170565C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170565C>T , CM000675.2:g.110170565C>T GRCh38
NC_000013.10:g.110822912C>T , CM000675.1:g.110822912C>T GRCh37
NC_000013.9:g.109620913C>T NCBI36
NG_011544.2:g.141585G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3724G>A MANE Select ENSP00000364979.4:p.Gly1242Ser
ENST00000375820.8:c.3724G>A ENSP00000364979.4:p.Gly1242Ser
NM_001845.5:c.3724G>A NP_001836.3:p.Gly1242Ser
XM_011521048.1:c.3532G>A XP_011519350.1:p.Gly1178Ser
XM_011521048.2:c.3532G>A XP_011519350.1:p.Gly1178Ser
NM_001845.6:c.3724G>A MANE Select NP_001836.3:p.Gly1242Ser
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