Canonical Allele Identifier: CA7047150

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 880648
• ClinVar RCV Id: RCV001109099 ; RCV002249694 ; RCV002556133
• dbSNP Id: rs375583789
• ExAC: 13:110822124 G / A
• gnomAD v2: 13-110822124-G-A
• gnomAD v3: 13-110169777-G-A
• gnomAD v4: 13-110169777-G-A
• MyVariant Identifiers: chr13:g.110822124G>A (hg19) ; chr13:g.110169777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169777G>A , CM000675.2:g.110169777G>A	GRCh38
NC_000013.10:g.110822124G>A , CM000675.1:g.110822124G>A	GRCh37
NC_000013.9:g.109620125G>A	NCBI36
NG_011544.2:g.142373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-15C>T MANE Select	ENSP00000364979.4:n.3743-15C>T
ENST00000375820.8:c.3743-15C>T	ENSP00000364979.4:n.3743-15C>T
NM_001845.5:c.3743-15C>T	NP_001836.3:n.3743-15C>T
XM_011521048.1:c.3551-15C>T	XP_011519350.1:n.3551-15C>T
XM_011521048.2:c.3551-15C>T	XP_011519350.1:n.3551-15C>T
NM_001845.6:c.3743-15C>T MANE Select	NP_001836.3:n.3743-15C>T