Canonical Allele Identifier: CA388664119
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2078674
ClinVar RCV Id: RCV002993895
dbSNP Id: rs1877756617
MyVariant Identifiers: chr13:g.110826257C>G (hg19) chr13:g.110173910C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173910C>G , CM000675.2:g.110173910C>G GRCh38
NC_000013.10:g.110826257C>G , CM000675.1:g.110826257C>G GRCh37
NC_000013.9:g.109624258C>G NCBI36
NG_011544.2:g.138240G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3495G>C MANE Select ENSP00000364979.4:p.Lys1165Asn
ENST00000375820.8:c.3495G>C ENSP00000364979.4:p.Lys1165Asn
NM_001845.5:c.3495G>C NP_001836.3:p.Lys1165Asn
XM_011521048.1:c.3303G>C XP_011519350.1:p.Lys1101Asn
XM_011521048.2:c.3303G>C XP_011519350.1:p.Lys1101Asn
NM_001845.6:c.3495G>C MANE Select NP_001836.3:p.Lys1165Asn
Search 100 bp 5'
Search 100 bp 3'