Canonical Allele Identifier: CA2575453830
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173845G>A , CM000675.2:g.110173845G>A GRCh38
NC_000013.10:g.110826192G>A , CM000675.1:g.110826192G>A GRCh37
NC_000013.9:g.109624193G>A NCBI36
NG_011544.2:g.138305C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3505+55C>T MANE Select ENSP00000364979.4:n.3505+55C>T
ENST00000375820.8:c.3505+55C>T ENSP00000364979.4:n.3505+55C>T
NM_001845.5:c.3505+55C>T NP_001836.3:n.3505+55C>T
XM_011521048.1:c.3313+55C>T XP_011519350.1:n.3313+55C>T
XM_011521048.2:c.3313+55C>T XP_011519350.1:n.3313+55C>T
NM_001845.6:c.3505+55C>T MANE Select NP_001836.3:n.3505+55C>T
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