Canonical Allele Identifier: CA1637687

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 2565410
• ClinVar RCV Id: RCV003288449
• dbSNP Id: rs769972832
• ExAC: 2:44104811 C / T
• gnomAD v2: 2-44104811-C-T
• gnomAD v4: 2-43877672-C-T
• MyVariant Identifiers: chr2:g.44104811C>T (hg19) ; chr2:g.43877672C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877672C>T , CM000664.2:g.43877672C>T	GRCh38
NC_000002.11:g.44104811C>T , CM000664.1:g.44104811C>T	GRCh37
NC_000002.10:g.43958315C>T	NCBI36
NG_008884.1:g.43709C>T
NG_008884.2:g.50731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1868C>T MANE Select	ENSP00000272286.2:p.Ala623Val
ENST00000272286.2:c.1868C>T	ENSP00000272286.2:p.Ala623Val
NM_022437.2:c.1868C>T	NP_071882.1:p.Ala623Val
XM_005264483.2:c.1865C>T	XP_005264540.1:p.Ala622Val
XM_011533029.1:c.1880C>T	XP_011531331.1:p.Ala627Val
XM_011533030.1:c.1877C>T	XP_011531332.1:p.Ala626Val
XM_011533031.1:c.1652C>T	XP_011531333.1:p.Ala551Val
XR_939707.1:n.2370C>T
NM_001357321.1:c.1865C>T	NP_001344250.1:p.Ala622Val
XM_011533029.2:c.1880C>T	XP_011531331.1:p.Ala627Val
XM_011533030.2:c.1877C>T	XP_011531332.1:p.Ala626Val
XR_001738891.1:n.2384C>T
XR_939707.2:n.2384C>T
NM_022437.3:c.1868C>T MANE Select	NP_071882.1:p.Ala623Val
NM_001357321.2:c.1865C>T	NP_001344250.1:p.Ala622Val