Canonical Allele Identifier: CA1637578

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 2628634
• ClinVar RCV Id: RCV003399590
• dbSNP Id: rs202028007
• ExAC: 2:44102445 C / T
• gnomAD v2: 2-44102445-C-T
• gnomAD v3: 2-43875306-C-T
• gnomAD v4: 2-43875306-C-T
• MyVariant Identifiers: chr2:g.44102445C>T (hg19) ; chr2:g.43875306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875306C>T , CM000664.2:g.43875306C>T	GRCh38
NC_000002.11:g.44102445C>T , CM000664.1:g.44102445C>T	GRCh37
NC_000002.10:g.43955949C>T	NCBI36
NG_008884.1:g.41343C>T
NG_008884.2:g.48365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1649C>T MANE Select	ENSP00000272286.2:p.Ala550Val
ENST00000272286.2:c.1649C>T	ENSP00000272286.2:p.Ala550Val
NM_022437.2:c.1649C>T	NP_071882.1:p.Ala550Val
XM_005264483.2:c.1646C>T	XP_005264540.1:p.Ala549Val
XM_011533029.1:c.1661C>T	XP_011531331.1:p.Ala554Val
XM_011533030.1:c.1658C>T	XP_011531332.1:p.Ala553Val
XM_011533031.1:c.1433C>T	XP_011531333.1:p.Ala478Val
XR_939707.1:n.2151C>T
NM_001357321.1:c.1646C>T	NP_001344250.1:p.Ala549Val
XM_011533029.2:c.1661C>T	XP_011531331.1:p.Ala554Val
XM_011533030.2:c.1658C>T	XP_011531332.1:p.Ala553Val
XR_001738891.1:n.2165C>T
XR_939707.2:n.2165C>T
NM_022437.3:c.1649C>T MANE Select	NP_071882.1:p.Ala550Val
NM_001357321.2:c.1646C>T	NP_001344250.1:p.Ala549Val