Canonical Allele Identifier: CA2623673254
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110173810-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173810C>A , CM000675.2:g.110173810C>A GRCh38
NC_000013.10:g.110826157C>A , CM000675.1:g.110826157C>A GRCh37
NC_000013.9:g.109624158C>A NCBI36
NG_011544.2:g.138340G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3505+90G>T MANE Select ENSP00000364979.4:n.3505+90G>T
ENST00000375820.8:c.3505+90G>T ENSP00000364979.4:n.3505+90G>T
NM_001845.5:c.3505+90G>T NP_001836.3:n.3505+90G>T
XM_011521048.1:c.3313+90G>T XP_011519350.1:n.3313+90G>T
XM_011521048.2:c.3313+90G>T XP_011519350.1:n.3313+90G>T
NM_001845.6:c.3505+90G>T MANE Select NP_001836.3:n.3505+90G>T
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