Canonical Allele Identifier: CA7047174

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 1712709
• ClinVar RCV Id: RCV002300881
• dbSNP Id: rs552258998
• ExAC: 13:110822935 G / A
• gnomAD v2: 13-110822935-G-A
• gnomAD v3: 13-110170588-G-A
• gnomAD v4: 13-110170588-G-A
• MyVariant Identifiers: chr13:g.110822935G>A (hg19) ; chr13:g.110170588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170588G>A , CM000675.2:g.110170588G>A	GRCh38
NC_000013.10:g.110822935G>A , CM000675.1:g.110822935G>A	GRCh37
NC_000013.9:g.109620936G>A	NCBI36
NG_011544.2:g.141562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3701C>T MANE Select	ENSP00000364979.4:p.Pro1234Leu
ENST00000375820.8:c.3701C>T	ENSP00000364979.4:p.Pro1234Leu
NM_001845.5:c.3701C>T	NP_001836.3:p.Pro1234Leu
XM_011521048.1:c.3509C>T	XP_011519350.1:p.Pro1170Leu
XM_011521048.2:c.3509C>T	XP_011519350.1:p.Pro1170Leu
NM_001845.6:c.3701C>T MANE Select	NP_001836.3:p.Pro1234Leu