Canonical Allele Identifier: CA7047902

Gene: COL4A1

Linked Data

• dbSNP Id: rs371627589
• ExAC: 13:110844583 C / T
• gnomAD v2: 13-110844583-C-T
• MyVariant Identifiers: chr13:g.110844583C>T (hg19) ; chr13:g.110192236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192236C>T , CM000675.2:g.110192236C>T	GRCh38
NC_000013.10:g.110844583C>T , CM000675.1:g.110844583C>T	GRCh37
NC_000013.9:g.109642584C>T	NCBI36
NG_011544.2:g.119914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1514G>A MANE Select	ENSP00000364979.4:p.Arg505Lys
ENST00000543140.6:c.1514G>A	ENSP00000443348.1:p.Arg505Lys
ENST00000649738.1:n.1644G>A
ENST00000375820.8:c.1514G>A	ENSP00000364979.4:p.Arg505Lys
ENST00000543140.5:c.1514G>A	ENSP00000443348.1:p.Arg505Lys
NM_001303110.1:c.1514G>A	NP_001290039.1:p.Arg505Lys
NM_001845.5:c.1514G>A	NP_001836.3:p.Arg505Lys
XM_011521048.1:c.1322G>A	XP_011519350.1:p.Arg441Lys
XM_011521048.2:c.1322G>A	XP_011519350.1:p.Arg441Lys
NM_001845.6:c.1514G>A MANE Select	NP_001836.3:p.Arg505Lys
NM_001303110.2:c.1514G>A	NP_001290039.1:p.Arg505Lys