Canonical Allele Identifier: CA10638941

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 311014
• ClinVar RCV Id: RCV000260071 ; RCV000360412 ; RCV002248531
• dbSNP Id: rs886049955
• gnomAD v2: 13-110802233-C-A
• gnomAD v3: 13-110149886-C-A
• gnomAD v4: 13-110149886-C-A
• MyVariant Identifiers: chr13:g.110802233C>A (hg19) ; chr13:g.110149886C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110149886C>A , CM000675.2:g.110149886C>A	GRCh38
NC_000013.10:g.110802233C>A , CM000675.1:g.110802233C>A	GRCh37
NC_000013.9:g.109600234C>A	NCBI36
NG_011544.2:g.162264G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.*477G>T MANE Select	ENSP00000364979.4:n.*477G>T
ENST00000649720.1:n.1655G>T
ENST00000650424.1:c.1637G>T
ENST00000375820.8:c.*477G>T	ENSP00000364979.4:n.*477G>T
NM_001845.5:c.*477G>T	NP_001836.3:n.*477G>T
XM_011521048.1:c.*477G>T	XP_011519350.1:n.*477G>T
XM_011521048.2:c.*477G>T	XP_011519350.1:n.*477G>T
NM_001845.6:c.*477G>T MANE Select	NP_001836.3:n.*477G>T