Canonical Allele Identifier: CA388661763
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1877515651
gnomAD v3: 13-110169669-A-G
gnomAD v4: 13-110169669-A-G
MyVariant Identifiers: chr13:g.110822016A>G (hg19) chr13:g.110169669A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169669A>G , CM000675.2:g.110169669A>G GRCh38
NC_000013.10:g.110822016A>G , CM000675.1:g.110822016A>G GRCh37
NC_000013.9:g.109620017A>G NCBI36
NG_011544.2:g.142481T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3836T>C MANE Select ENSP00000364979.4:p.Val1279Ala
ENST00000375820.8:c.3836T>C ENSP00000364979.4:p.Val1279Ala
NM_001845.5:c.3836T>C NP_001836.3:p.Val1279Ala
XM_011521048.1:c.3644T>C XP_011519350.1:p.Val1215Ala
XM_011521048.2:c.3644T>C XP_011519350.1:p.Val1215Ala
NM_001845.6:c.3836T>C MANE Select NP_001836.3:p.Val1279Ala
Search 100 bp 5'
Search 100 bp 3'