Canonical Allele Identifier: CA8440035

Gene: B9D1

Linked Data

• ClinVar Variation Id: 376895
• ClinVar RCV Id: RCV000428981 ; RCV001291732 ; RCV004017610 ; RCV004555575
• dbSNP Id: rs73980009
• ExAC: 17:19241062 C / G
• gnomAD v2: 17-19241062-C-G
• gnomAD v3: 17-19337749-C-G
• gnomAD v4: 17-19337749-C-G
• MyVariant Identifiers: chr17:g.19241062C>G (hg19) ; chr17:g.19337749C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19337749C>G , CM000679.2:g.19337749C>G	GRCh38
NC_000017.10:g.19241062C>G , CM000679.1:g.19241062C>G	GRCh37
NC_000017.9:g.19181655C>G	NCBI36
NG_031885.1:g.45434G>C
NG_031885.2:g.45445G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000582857.2:c.113-1G>C	ENSP00000463165.2:n.113-1G>C
ENST00000671102.1:c.536-1G>C	ENSP00000499690.1:n.536-1G>C
ENST00000674596.1:c.303-1G>C	ENSP00000501877.1:n.303-1G>C
ENST00000675510.1:c.405-1G>C	ENSP00000501817.1:n.405-1G>C
ENST00000575403.5:c.400-1G>C	ENSP00000459857.1:n.400-1G>C
NM_001243475.1:c.400-1G>C	NP_001230404.1:n.400-1G>C
XM_005256608.2:c.405-1G>C	XP_005256665.1:n.405-1G>C
XM_011523794.1:c.473-1G>C	XP_011522096.1:n.473-1G>C
NM_001243475.2:c.400-1G>C	NP_001230404.1:n.400-1G>C
NM_001321218.1:c.473-1G>C	NP_001308147.1:n.473-1G>C
NM_001321219.1:c.405-1G>C	NP_001308148.1:n.405-1G>C
NM_001321218.2:c.473-1G>C	NP_001308147.1:n.473-1G>C
NM_001321219.2:c.405-1G>C	NP_001308148.1:n.405-1G>C
NM_001368769.2:c.113-1G>C	NP_001355698.1:n.113-1G>C