Canonical Allele Identifier: CA7047626

Gene: COL4A1

Linked Data

• dbSNP Id: rs772776394
• ExAC: 13:110831577 C / A
• gnomAD v2: 13-110831577-C-A
• gnomAD v4: 13-110179230-C-A
• MyVariant Identifiers: chr13:g.110831577C>A (hg19) ; chr13:g.110179230C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110179230C>A , CM000675.2:g.110179230C>A	GRCh38
NC_000013.10:g.110831577C>A , CM000675.1:g.110831577C>A	GRCh37
NC_000013.9:g.109629578C>A	NCBI36
NG_011544.2:g.132920G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.2344+41G>T MANE Select	ENSP00000364979.4:n.2344+41G>T
ENST00000649738.1:n.2474+41G>T
ENST00000375820.8:c.2344+41G>T	ENSP00000364979.4:n.2344+41G>T
NM_001845.5:c.2344+41G>T	NP_001836.3:n.2344+41G>T
XM_011521048.1:c.2152+41G>T	XP_011519350.1:n.2152+41G>T
XM_011521048.2:c.2152+41G>T	XP_011519350.1:n.2152+41G>T
NM_001845.6:c.2344+41G>T MANE Select	NP_001836.3:n.2344+41G>T