Canonical Allele Identifier: CA694997291
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1422054194
gnomAD v3: 13-110179243-C-A
gnomAD v4: 13-110179243-C-A
MyVariant Identifiers: chr13:g.110831590C>A (hg19) chr13:g.110179243C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179243C>A , CM000675.2:g.110179243C>A GRCh38
NC_000013.10:g.110831590C>A , CM000675.1:g.110831590C>A GRCh37
NC_000013.9:g.109629591C>A NCBI36
NG_011544.2:g.132907G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2344+28G>T MANE Select ENSP00000364979.4:n.2344+28G>T
ENST00000649738.1:n.2474+28G>T
ENST00000375820.8:c.2344+28G>T ENSP00000364979.4:n.2344+28G>T
NM_001845.5:c.2344+28G>T NP_001836.3:n.2344+28G>T
XM_011521048.1:c.2152+28G>T XP_011519350.1:n.2152+28G>T
XM_011521048.2:c.2152+28G>T XP_011519350.1:n.2152+28G>T
NM_001845.6:c.2344+28G>T MANE Select NP_001836.3:n.2344+28G>T
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