Canonical Allele Identifier: CA388723647
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192914C>G , CM000675.2:g.110192914C>G GRCh38
NC_000013.10:g.110845261C>G , CM000675.1:g.110845261C>G GRCh37
NC_000013.9:g.109643262C>G NCBI36
NG_011544.2:g.119236G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.1382-1G>C MANE Select ENSP00000364979.4:n.1382-1G>C
ENST00000543140.6:c.1382-1G>C ENSP00000443348.1:n.1382-1G>C
ENST00000649738.1:n.1512-1G>C
ENST00000375820.8:c.1382-1G>C ENSP00000364979.4:n.1382-1G>C
ENST00000543140.5:c.1382-1G>C ENSP00000443348.1:n.1382-1G>C
NM_001303110.1:c.1382-1G>C NP_001290039.1:n.1382-1G>C
NM_001845.5:c.1382-1G>C NP_001836.3:n.1382-1G>C
XM_011521048.1:c.1190-1G>C XP_011519350.1:n.1190-1G>C
XM_011521048.2:c.1190-1G>C XP_011519350.1:n.1190-1G>C
NM_001845.6:c.1382-1G>C MANE Select NP_001836.3:n.1382-1G>C
NM_001303110.2:c.1382-1G>C NP_001290039.1:n.1382-1G>C
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