Canonical Allele Identifier: CA1637604

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1778684
• ClinVar RCV Id: RCV002399009
• dbSNP Id: rs201563094
• ExAC: 2:44102515 C / T
• gnomAD v2: 2-44102515-C-T
• gnomAD v3: 2-43875376-C-T
• gnomAD v4: 2-43875376-C-T
• MyVariant Identifiers: chr2:g.44102515C>T (hg19) ; chr2:g.44102515_44102516delinsTG (hg19) ; chr2:g.43875376C>T (hg38) ; chr2:g.43875376_43875377delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875376C>T , CM000664.2:g.43875376C>T	GRCh38
NC_000002.11:g.44102515C>T , CM000664.1:g.44102515C>T	GRCh37
NC_000002.10:g.43956019C>T	NCBI36
NG_008884.1:g.41413C>T
NG_008884.2:g.48435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1719C>T MANE Select	ENSP00000272286.2:p.Ala573=
ENST00000272286.2:c.1719C>T	ENSP00000272286.2:p.Ala573=
NM_022437.2:c.1719C>T	NP_071882.1:p.Ala573=
XM_005264483.2:c.1716C>T	XP_005264540.1:p.Ala572=
XM_011533029.1:c.1731C>T	XP_011531331.1:p.Ala577=
XM_011533030.1:c.1728C>T	XP_011531332.1:p.Ala576=
XM_011533031.1:c.1503C>T	XP_011531333.1:p.Ala501=
XR_939707.1:n.2221C>T
NM_001357321.1:c.1716C>T	NP_001344250.1:p.Ala572=
XM_011533029.2:c.1731C>T	XP_011531331.1:p.Ala577=
XM_011533030.2:c.1728C>T	XP_011531332.1:p.Ala576=
XR_001738891.1:n.2235C>T
XR_939707.2:n.2235C>T
NM_022437.3:c.1719C>T MANE Select	NP_071882.1:p.Ala573=
NM_001357321.2:c.1716C>T	NP_001344250.1:p.Ala572=