Canonical Allele Identifier: CA532280648

Gene: ABCG8

Linked Data

• dbSNP Id: rs1287572925
• gnomAD v2: 2-44066264-G-C
• gnomAD v4: 2-43839125-G-C
• MyVariant Identifiers: chr2:g.44066264G>C (hg19) ; chr2:g.43839125G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839125G>C , CM000664.2:g.43839125G>C	GRCh38
NC_000002.11:g.44066264G>C , CM000664.1:g.44066264G>C	GRCh37
NC_000002.10:g.43919768G>C	NCBI36
NG_008883.1:g.4695C>G
NG_008884.1:g.5162G>C
NG_008884.2:g.12184G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.63+9G>C MANE Select	ENSP00000272286.2:n.63+9G>C
ENST00000643284.1:n.521-5382G>C
ENST00000644611.1:c.76-5382G>C	ENSP00000495423.1:n.76-5382G>C
ENST00000272286.2:c.63+9G>C	ENSP00000272286.2:n.63+9G>C
NM_022437.2:c.63+9G>C	NP_071882.1:n.63+9G>C
XM_005264483.2:c.63+9G>C	XP_005264540.1:n.63+9G>C
XM_011533029.1:c.76-5382G>C	XP_011531331.1:n.76-5382G>C
XM_011533030.1:c.76-5382G>C	XP_011531332.1:n.76-5382G>C
XM_011533031.1:c.-153-5382G>C	XP_011531333.1:n.-153-5382G>C
XR_939707.1:n.566-5382G>C
NM_001357321.1:c.63+9G>C	NP_001344250.1:n.63+9G>C
XM_011533029.2:c.76-5382G>C	XP_011531331.1:n.76-5382G>C
XM_011533030.2:c.76-5382G>C	XP_011531332.1:n.76-5382G>C
XR_001738891.1:n.580-5382G>C
XR_939707.2:n.580-5382G>C
NM_022437.3:c.63+9G>C MANE Select	NP_071882.1:n.63+9G>C
NM_001357321.2:c.63+9G>C	NP_001344250.1:n.63+9G>C