Canonical Allele Identifier: CA1637728

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 289084
• ClinVar RCV Id: RCV000342751 ; RCV001699284 ; RCV000403108 ; RCV002411170
• dbSNP Id: rs147991100
• ExAC: 2:44104971 C / G
• gnomAD v2: 2-44104971-C-G
• gnomAD v3: 2-43877832-C-G
• gnomAD v4: 2-43877832-C-G
• MyVariant Identifiers: chr2:g.44104971C>G (hg19) ; chr2:g.43877832C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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