Canonical Allele Identifier: CA388660683
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110818633C>A (hg19) chr13:g.110166286C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166286C>A , CM000675.2:g.110166286C>A GRCh38
NC_000013.10:g.110818633C>A , CM000675.1:g.110818633C>A GRCh37
NC_000013.9:g.109616634C>A NCBI36
NG_011544.2:g.145864G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3967G>T MANE Select ENSP00000364979.4:p.Gly1323Cys
ENST00000650424.1:c.123G>T
ENST00000375820.8:c.3967G>T ENSP00000364979.4:p.Gly1323Cys
NM_001845.5:c.3967G>T NP_001836.3:p.Gly1323Cys
XM_011521048.1:c.3775G>T XP_011519350.1:p.Gly1259Cys
XM_011521048.2:c.3775G>T XP_011519350.1:p.Gly1259Cys
NM_001845.6:c.3967G>T MANE Select NP_001836.3:p.Gly1323Cys
Search 100 bp 5'
Search 100 bp 3'