Canonical Allele Identifier: CA346671017

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 2438788
• ClinVar RCV Id: RCV003139540
• MyVariant Identifiers: chr2:g.44104828G>T (hg19) ; chr2:g.43877689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877689G>T , CM000664.2:g.43877689G>T	GRCh38
NC_000002.11:g.44104828G>T , CM000664.1:g.44104828G>T	GRCh37
NC_000002.10:g.43958332G>T	NCBI36
NG_008884.1:g.43726G>T
NG_008884.2:g.50748G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1884+1G>T MANE Select	ENSP00000272286.2:n.1884+1G>T
ENST00000272286.2:c.1884+1G>T	ENSP00000272286.2:n.1884+1G>T
NM_022437.2:c.1884+1G>T	NP_071882.1:n.1884+1G>T
XM_005264483.2:c.1881+1G>T	XP_005264540.1:n.1881+1G>T
XM_011533029.1:c.1896+1G>T	XP_011531331.1:n.1896+1G>T
XM_011533030.1:c.1893+1G>T	XP_011531332.1:n.1893+1G>T
XM_011533031.1:c.1668+1G>T	XP_011531333.1:n.1668+1G>T
XR_939707.1:n.2386+1G>T
NM_001357321.1:c.1881+1G>T	NP_001344250.1:n.1881+1G>T
XM_011533029.2:c.1896+1G>T	XP_011531331.1:n.1896+1G>T
XM_011533030.2:c.1893+1G>T	XP_011531332.1:n.1893+1G>T
XR_001738891.1:n.2400+1G>T
XR_939707.2:n.2400+1G>T
NM_022437.3:c.1884+1G>T MANE Select	NP_071882.1:n.1884+1G>T
NM_001357321.2:c.1881+1G>T	NP_001344250.1:n.1881+1G>T