Canonical Allele Identifier: CA1636953

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1795166
• ClinVar RCV Id: RCV002431265 ; RCV003102143
• dbSNP Id: rs778819090
• ExAC: 2:44073399 C / T
• gnomAD v2: 2-44073399-C-T
• gnomAD v4: 2-43846260-C-T
• MyVariant Identifiers: chr2:g.44073399C>T (hg19) ; chr2:g.43846260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846260C>T , CM000664.2:g.43846260C>T	GRCh38
NC_000002.11:g.44073399C>T , CM000664.1:g.44073399C>T	GRCh37
NC_000002.10:g.43926903C>T	NCBI36
NG_008884.1:g.12297C>T
NG_008884.2:g.19319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.271C>T MANE Select	ENSP00000272286.2:p.Leu91=
ENST00000643284.1:n.728C>T
ENST00000644611.1:c.283C>T	ENSP00000495423.1:p.Leu95=
ENST00000272286.2:c.271C>T	ENSP00000272286.2:p.Leu91=
NM_022437.2:c.271C>T	NP_071882.1:p.Leu91=
XM_005264483.2:c.271C>T	XP_005264540.1:p.Leu91=
XM_011533029.1:c.283C>T	XP_011531331.1:p.Leu95=
XM_011533030.1:c.283C>T	XP_011531332.1:p.Leu95=
XM_011533031.1:c.55C>T	XP_011531333.1:p.Leu19=
XR_939707.1:n.773C>T
NM_001357321.1:c.271C>T	NP_001344250.1:p.Leu91=
XM_011533029.2:c.283C>T	XP_011531331.1:p.Leu95=
XM_011533030.2:c.283C>T	XP_011531332.1:p.Leu95=
XR_001738891.1:n.787C>T
XR_939707.2:n.787C>T
NM_022437.3:c.271C>T MANE Select	NP_071882.1:p.Leu91=
NM_001357321.2:c.271C>T	NP_001344250.1:p.Leu91=