Canonical Allele Identifier: CA2520891022
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110177935-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110177935T>C , CM000675.2:g.110177935T>C GRCh38
NC_000013.10:g.110830282T>C , CM000675.1:g.110830282T>C GRCh37
NC_000013.9:g.109628283T>C NCBI36
NG_011544.2:g.134215A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.2627-4A>G MANE Select ENSP00000364979.4:n.2627-4A>G
ENST00000375820.8:c.2627-4A>G ENSP00000364979.4:n.2627-4A>G
NM_001845.5:c.2627-4A>G NP_001836.3:n.2627-4A>G
XM_011521048.1:c.2435-4A>G XP_011519350.1:n.2435-4A>G
XM_011521048.2:c.2435-4A>G XP_011519350.1:n.2435-4A>G
NM_001845.6:c.2627-4A>G MANE Select NP_001836.3:n.2627-4A>G
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