Canonical Allele Identifier: CA1637554

Gene: ABCG8

Linked Data

• dbSNP Id: rs748122126
• ExAC: 2:44102400 T / A
• gnomAD v2: 2-44102400-T-A
• gnomAD v3: 2-43875261-T-A
• gnomAD v4: 2-43875261-T-A
• MyVariant Identifiers: chr2:g.44102400T>A (hg19) ; chr2:g.43875261T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875261T>A , CM000664.2:g.43875261T>A	GRCh38
NC_000002.11:g.44102400T>A , CM000664.1:g.44102400T>A	GRCh37
NC_000002.10:g.43955904T>A	NCBI36
NG_008884.1:g.41298T>A
NG_008884.2:g.48320T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1604T>A MANE Select	ENSP00000272286.2:p.Val535Glu
ENST00000272286.2:c.1604T>A	ENSP00000272286.2:p.Val535Glu
NM_022437.2:c.1604T>A	NP_071882.1:p.Val535Glu
XM_005264483.2:c.1601T>A	XP_005264540.1:p.Val534Glu
XM_011533029.1:c.1616T>A	XP_011531331.1:p.Val539Glu
XM_011533030.1:c.1613T>A	XP_011531332.1:p.Val538Glu
XM_011533031.1:c.1388T>A	XP_011531333.1:p.Val463Glu
XR_939707.1:n.2106T>A
NM_001357321.1:c.1601T>A	NP_001344250.1:p.Val534Glu
XM_011533029.2:c.1616T>A	XP_011531331.1:p.Val539Glu
XM_011533030.2:c.1613T>A	XP_011531332.1:p.Val538Glu
XR_001738891.1:n.2120T>A
XR_939707.2:n.2120T>A
NM_022437.3:c.1604T>A MANE Select	NP_071882.1:p.Val535Glu
NM_001357321.2:c.1601T>A	NP_001344250.1:p.Val534Glu