Canonical Allele Identifier: CA1637243

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 2201186
• ClinVar RCV Id: RCV002638606 ; RCV003900868
• dbSNP Id: rs765369343
• ExAC: 2:44099134 C / T
• gnomAD v2: 2-44099134-C-T
• gnomAD v3: 2-43871995-C-T
• gnomAD v4: 2-43871995-C-T
• MyVariant Identifiers: chr2:g.44099134C>T (hg19) ; chr2:g.43871995C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43871995C>T , CM000664.2:g.43871995C>T	GRCh38
NC_000002.11:g.44099134C>T , CM000664.1:g.44099134C>T	GRCh37
NC_000002.10:g.43952638C>T	NCBI36
NG_008884.1:g.38032C>T
NG_008884.2:g.45054C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.984C>T MANE Select	ENSP00000272286.2:p.Asp328=
ENST00000644611.1:c.996C>T	ENSP00000495423.1:p.Asp332=
ENST00000272286.2:c.984C>T	ENSP00000272286.2:p.Asp328=
NM_022437.2:c.984C>T	NP_071882.1:p.Asp328=
XM_005264483.2:c.984C>T	XP_005264540.1:p.Asp328=
XM_011533029.1:c.996C>T	XP_011531331.1:p.Asp332=
XM_011533030.1:c.996C>T	XP_011531332.1:p.Asp332=
XM_011533031.1:c.768C>T	XP_011531333.1:p.Asp256=
XR_939707.1:n.1486C>T
NM_001357321.1:c.984C>T	NP_001344250.1:p.Asp328=
XM_011533029.2:c.996C>T	XP_011531331.1:p.Asp332=
XM_011533030.2:c.996C>T	XP_011531332.1:p.Asp332=
XR_001738891.1:n.1500C>T
XR_939707.2:n.1500C>T
NM_022437.3:c.984C>T MANE Select	NP_071882.1:p.Asp328=
NM_001357321.2:c.984C>T	NP_001344250.1:p.Asp328=