Canonical Allele Identifier: CA7047157

Gene: COL4A1

Linked Data

• dbSNP Id: rs532513106
• ExAC: 13:110822867 C / A
• gnomAD v2: 13-110822867-C-A
• gnomAD v3: 13-110170520-C-A
• gnomAD v4: 13-110170520-C-A
• MyVariant Identifiers: chr13:g.110822867C>A (hg19) ; chr13:g.110170520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170520C>A , CM000675.2:g.110170520C>A	GRCh38
NC_000013.10:g.110822867C>A , CM000675.1:g.110822867C>A	GRCh37
NC_000013.9:g.109620868C>A	NCBI36
NG_011544.2:g.141630G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3742+27G>T MANE Select	ENSP00000364979.4:n.3742+27G>T
ENST00000375820.8:c.3742+27G>T	ENSP00000364979.4:n.3742+27G>T
NM_001845.5:c.3742+27G>T	NP_001836.3:n.3742+27G>T
XM_011521048.1:c.3550+27G>T	XP_011519350.1:n.3550+27G>T
XM_011521048.2:c.3550+27G>T	XP_011519350.1:n.3550+27G>T
NM_001845.6:c.3742+27G>T MANE Select	NP_001836.3:n.3742+27G>T