Canonical Allele Identifier: CA346670608

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 3045656
• ClinVar RCV Id: RCV003951385
• dbSNP Id: rs200919814
• gnomAD v2: 2-44102490-C-T
• gnomAD v4: 2-43875351-C-T
• MyVariant Identifiers: chr2:g.44102490C>T (hg19) ; chr2:g.43875351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875351C>T , CM000664.2:g.43875351C>T	GRCh38
NC_000002.11:g.44102490C>T , CM000664.1:g.44102490C>T	GRCh37
NC_000002.10:g.43955994C>T	NCBI36
NG_008884.1:g.41388C>T
NG_008884.2:g.48410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1694C>T MANE Select	ENSP00000272286.2:p.Ala565Val
ENST00000272286.2:c.1694C>T	ENSP00000272286.2:p.Ala565Val
NM_022437.2:c.1694C>T	NP_071882.1:p.Ala565Val
XM_005264483.2:c.1691C>T	XP_005264540.1:p.Ala564Val
XM_011533029.1:c.1706C>T	XP_011531331.1:p.Ala569Val
XM_011533030.1:c.1703C>T	XP_011531332.1:p.Ala568Val
XM_011533031.1:c.1478C>T	XP_011531333.1:p.Ala493Val
XR_939707.1:n.2196C>T
NM_001357321.1:c.1691C>T	NP_001344250.1:p.Ala564Val
XM_011533029.2:c.1706C>T	XP_011531331.1:p.Ala569Val
XM_011533030.2:c.1703C>T	XP_011531332.1:p.Ala568Val
XR_001738891.1:n.2210C>T
XR_939707.2:n.2210C>T
NM_022437.3:c.1694C>T MANE Select	NP_071882.1:p.Ala565Val
NM_001357321.2:c.1691C>T	NP_001344250.1:p.Ala564Val