Canonical Allele Identifier: CA2623672894
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110170495-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170495T>A , CM000675.2:g.110170495T>A GRCh38
NC_000013.10:g.110822842T>A , CM000675.1:g.110822842T>A GRCh37
NC_000013.9:g.109620843T>A NCBI36
NG_011544.2:g.141655A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3742+52A>T MANE Select ENSP00000364979.4:n.3742+52A>T
ENST00000375820.8:c.3742+52A>T ENSP00000364979.4:n.3742+52A>T
NM_001845.5:c.3742+52A>T NP_001836.3:n.3742+52A>T
XM_011521048.1:c.3550+52A>T XP_011519350.1:n.3550+52A>T
XM_011521048.2:c.3550+52A>T XP_011519350.1:n.3550+52A>T
NM_001845.6:c.3742+52A>T MANE Select NP_001836.3:n.3742+52A>T
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