Canonical Allele Identifier: CA388668550
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1390685142
gnomAD v2: 13-110831630-G-C
MyVariant Identifiers: chr13:g.110831630G>C (hg19) chr13:g.110179283G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179283G>C , CM000675.2:g.110179283G>C GRCh38
NC_000013.10:g.110831630G>C , CM000675.1:g.110831630G>C GRCh37
NC_000013.9:g.109629631G>C NCBI36
NG_011544.2:g.132867C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2332C>G MANE Select ENSP00000364979.4:p.Gln778Glu
ENST00000649738.1:n.2462C>G
ENST00000375820.8:c.2332C>G ENSP00000364979.4:p.Gln778Glu
NM_001845.5:c.2332C>G NP_001836.3:p.Gln778Glu
XM_011521048.1:c.2140C>G XP_011519350.1:p.Gln714Glu
XM_011521048.2:c.2140C>G XP_011519350.1:p.Gln714Glu
NM_001845.6:c.2332C>G MANE Select NP_001836.3:p.Gln778Glu
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