Canonical Allele Identifier: CA2623680950

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110205192-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205192A>G , CM000675.2:g.110205192A>G	GRCh38
NC_000013.10:g.110857539A>G , CM000675.1:g.110857539A>G	GRCh37
NC_000013.9:g.109655540A>G	NCBI36
NG_011544.2:g.106958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.957+161T>C MANE Select	ENSP00000364979.4:n.957+161T>C
ENST00000543140.6:c.957+161T>C	ENSP00000443348.1:n.957+161T>C
ENST00000647632.1:n.751T>C
ENST00000647797.1:c.836+161T>C
ENST00000649738.1:n.1087+161T>C
ENST00000375820.8:c.957+161T>C	ENSP00000364979.4:n.957+161T>C
ENST00000543140.5:c.957+161T>C	ENSP00000443348.1:n.957+161T>C
NM_001303110.1:c.957+161T>C	NP_001290039.1:n.957+161T>C
NM_001845.5:c.957+161T>C	NP_001836.3:n.957+161T>C
XM_011521048.1:c.765+161T>C	XP_011519350.1:n.765+161T>C
XM_011521048.2:c.765+161T>C	XP_011519350.1:n.765+161T>C
NM_001845.6:c.957+161T>C MANE Select	NP_001836.3:n.957+161T>C
NM_001303110.2:c.957+161T>C	NP_001290039.1:n.957+161T>C