Canonical Allele Identifier: CA7047257
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1954289
ClinVar RCV Id: RCV002705497
dbSNP Id: rs757078933
ExAC: 13:110826267 G / A
gnomAD v2: 13-110826267-G-A
gnomAD v4: 13-110173920-G-A
MyVariant Identifiers: chr13:g.110826267G>A (hg19) chr13:g.110173920G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173920G>A , CM000675.2:g.110173920G>A GRCh38
NC_000013.10:g.110826267G>A , CM000675.1:g.110826267G>A GRCh37
NC_000013.9:g.109624268G>A NCBI36
NG_011544.2:g.138230C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3485C>T MANE Select ENSP00000364979.4:p.Ala1162Val
ENST00000375820.8:c.3485C>T ENSP00000364979.4:p.Ala1162Val
NM_001845.5:c.3485C>T NP_001836.3:p.Ala1162Val
XM_011521048.1:c.3293C>T XP_011519350.1:p.Ala1098Val
XM_011521048.2:c.3293C>T XP_011519350.1:p.Ala1098Val
NM_001845.6:c.3485C>T MANE Select NP_001836.3:p.Ala1162Val
Search 100 bp 5'
Search 100 bp 3'