Canonical Allele Identifier: CA7047121

Gene: COL4A1

Linked Data

• dbSNP Id: rs200387297
• ExAC: 13:110821954 A / G
• gnomAD v2: 13-110821954-A-G
• gnomAD v3: 13-110169607-A-G
• gnomAD v4: 13-110169607-A-G
• MyVariant Identifiers: chr13:g.110821954A>G (hg19) ; chr13:g.110169607A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169607A>G , CM000675.2:g.110169607A>G	GRCh38
NC_000013.10:g.110821954A>G , CM000675.1:g.110821954A>G	GRCh37
NC_000013.9:g.109619955A>G	NCBI36
NG_011544.2:g.142543T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+22T>C MANE Select	ENSP00000364979.4:n.3876+22T>C
ENST00000650424.1:c.32+22T>C
ENST00000375820.8:c.3876+22T>C	ENSP00000364979.4:n.3876+22T>C
NM_001845.5:c.3876+22T>C	NP_001836.3:n.3876+22T>C
XM_011521048.1:c.3684+22T>C	XP_011519350.1:n.3684+22T>C
XM_011521048.2:c.3684+22T>C	XP_011519350.1:n.3684+22T>C
NM_001845.6:c.3876+22T>C MANE Select	NP_001836.3:n.3876+22T>C