Canonical Allele Identifier: CA612629954

Gene: COL4A1

Linked Data

• dbSNP Id: rs902236913
• gnomAD v2: 13-110857527-T-G
• gnomAD v3: 13-110205180-T-G
• gnomAD v4: 13-110205180-T-G
• MyVariant Identifiers: chr13:g.110857527T>G (hg19) ; chr13:g.110205180T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205180T>G , CM000675.2:g.110205180T>G	GRCh38
NC_000013.10:g.110857527T>G , CM000675.1:g.110857527T>G	GRCh37
NC_000013.9:g.109655528T>G	NCBI36
NG_011544.2:g.106970A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.957+173A>C MANE Select	ENSP00000364979.4:n.957+173A>C
ENST00000543140.6:c.957+173A>C	ENSP00000443348.1:n.957+173A>C
ENST00000647632.1:n.763A>C
ENST00000647797.1:c.836+173A>C
ENST00000649738.1:n.1087+173A>C
ENST00000375820.8:c.957+173A>C	ENSP00000364979.4:n.957+173A>C
ENST00000543140.5:c.957+173A>C	ENSP00000443348.1:n.957+173A>C
NM_001303110.1:c.957+173A>C	NP_001290039.1:n.957+173A>C
NM_001845.5:c.957+173A>C	NP_001836.3:n.957+173A>C
XM_011521048.1:c.765+173A>C	XP_011519350.1:n.765+173A>C
XM_011521048.2:c.765+173A>C	XP_011519350.1:n.765+173A>C
NM_001845.6:c.957+173A>C MANE Select	NP_001836.3:n.957+173A>C
NM_001303110.2:c.957+173A>C	NP_001290039.1:n.957+173A>C