Canonical Allele Identifier: CA7046744

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 1319044
• ClinVar RCV Id: RCV001755692 ; RCV002482290
• dbSNP Id: rs377350886
• ExAC: 13:110802754 G / A
• gnomAD v2: 13-110802754-G-A
• gnomAD v3: 13-110150407-G-A
• gnomAD v4: 13-110150407-G-A
• MyVariant Identifiers: chr13:g.110802754G>A (hg19) ; chr13:g.110150407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110150407G>A , CM000675.2:g.110150407G>A	GRCh38
NC_000013.10:g.110802754G>A , CM000675.1:g.110802754G>A	GRCh37
NC_000013.9:g.109600755G>A	NCBI36
NG_011544.2:g.161743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.4966C>T MANE Select	ENSP00000364979.4:p.Arg1656Cys
ENST00000649720.1:n.1134C>T
ENST00000650424.1:c.1116C>T
ENST00000375820.8:c.4966C>T	ENSP00000364979.4:p.Arg1656Cys
NM_001845.5:c.4966C>T	NP_001836.3:p.Arg1656Cys
XM_011521048.1:c.4774C>T	XP_011519350.1:p.Arg1592Cys
XM_011521048.2:c.4774C>T	XP_011519350.1:p.Arg1592Cys
NM_001845.6:c.4966C>T MANE Select	NP_001836.3:p.Arg1656Cys