Canonical Allele Identifier: CA388661864
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs2139154511
gnomAD v3: 13-110169706-C-T
gnomAD v4: 13-110169706-C-T
MyVariant Identifiers: chr13:g.110822053C>T (hg19) chr13:g.110169706C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169706C>T , CM000675.2:g.110169706C>T GRCh38
NC_000013.10:g.110822053C>T , CM000675.1:g.110822053C>T GRCh37
NC_000013.9:g.109620054C>T NCBI36
NG_011544.2:g.142444G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3799G>A MANE Select ENSP00000364979.4:p.Asp1267Asn
ENST00000375820.8:c.3799G>A ENSP00000364979.4:p.Asp1267Asn
NM_001845.5:c.3799G>A NP_001836.3:p.Asp1267Asn
XM_011521048.1:c.3607G>A XP_011519350.1:p.Asp1203Asn
XM_011521048.2:c.3607G>A XP_011519350.1:p.Asp1203Asn
NM_001845.6:c.3799G>A MANE Select NP_001836.3:p.Asp1267Asn
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