Canonical Allele Identifier: CA425908315

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1585376
• ClinVar RCV Id: RCV002112497
• dbSNP Id: rs147991100
• gnomAD v4: 2-43877832-C-T
• MyVariant Identifiers: chr2:g.44104971C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877832C>T , CM000664.2:g.43877832C>T	GRCh38
NC_000002.11:g.44104971C>T , CM000664.1:g.44104971C>T	GRCh37
NC_000002.10:g.43958475C>T	NCBI36
NG_008884.1:g.43869C>T
NG_008884.2:g.50891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1941C>T MANE Select	ENSP00000272286.2:p.Val647=
ENST00000272286.2:c.1941C>T	ENSP00000272286.2:p.Val647=
NM_022437.2:c.1941C>T	NP_071882.1:p.Val647=
XM_005264483.2:c.1938C>T	XP_005264540.1:p.Val646=
XM_011533029.1:c.1953C>T	XP_011531331.1:p.Val651=
XM_011533030.1:c.1950C>T	XP_011531332.1:p.Val650=
XM_011533031.1:c.1725C>T	XP_011531333.1:p.Val575=
XR_939707.1:n.2443C>T
NM_001357321.1:c.1938C>T	NP_001344250.1:p.Val646=
XM_011533029.2:c.1953C>T	XP_011531331.1:p.Val651=
XM_011533030.2:c.1950C>T	XP_011531332.1:p.Val650=
XR_001738891.1:n.2457C>T
XR_939707.2:n.2457C>T
NM_022437.3:c.1941C>T MANE Select	NP_071882.1:p.Val647=
NM_001357321.2:c.1938C>T	NP_001344250.1:p.Val646=