Canonical Allele Identifier: CA7047173

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 1027964
• ClinVar RCV Id: RCV001328882 ; RCV001507833 ; RCV001849505
• dbSNP Id: rs781655700
• ExAC: 13:110822932 T / C
• gnomAD v2: 13-110822932-T-C
• gnomAD v4: 13-110170585-T-C
• MyVariant Identifiers: chr13:g.110822932T>C (hg19) ; chr13:g.110170585T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170585T>C , CM000675.2:g.110170585T>C	GRCh38
NC_000013.10:g.110822932T>C , CM000675.1:g.110822932T>C	GRCh37
NC_000013.9:g.109620933T>C	NCBI36
NG_011544.2:g.141565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3704A>G MANE Select	ENSP00000364979.4:p.Lys1235Arg
ENST00000375820.8:c.3704A>G	ENSP00000364979.4:p.Lys1235Arg
NM_001845.5:c.3704A>G	NP_001836.3:p.Lys1235Arg
XM_011521048.1:c.3512A>G	XP_011519350.1:p.Lys1171Arg
XM_011521048.2:c.3512A>G	XP_011519350.1:p.Lys1171Arg
NM_001845.6:c.3704A>G MANE Select	NP_001836.3:p.Lys1235Arg