Canonical Allele Identifier: CA612866217

Gene: COL4A1

Linked Data

• dbSNP Id: rs373696600
• gnomAD v2: 13-110831606-G-A
• gnomAD v3: 13-110179259-G-A
• gnomAD v4: 13-110179259-G-A
• MyVariant Identifiers: chr13:g.110831606G>A (hg19) ; chr13:g.110179259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110179259G>A , CM000675.2:g.110179259G>A	GRCh38
NC_000013.10:g.110831606G>A , CM000675.1:g.110831606G>A	GRCh37
NC_000013.9:g.109629607G>A	NCBI36
NG_011544.2:g.132891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.2344+12C>T MANE Select	ENSP00000364979.4:n.2344+12C>T
ENST00000649738.1:n.2474+12C>T
ENST00000375820.8:c.2344+12C>T	ENSP00000364979.4:n.2344+12C>T
NM_001845.5:c.2344+12C>T	NP_001836.3:n.2344+12C>T
XM_011521048.1:c.2152+12C>T	XP_011519350.1:n.2152+12C>T
XM_011521048.2:c.2152+12C>T	XP_011519350.1:n.2152+12C>T
NM_001845.6:c.2344+12C>T MANE Select	NP_001836.3:n.2344+12C>T