Canonical Allele Identifier: CA346663464

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44073337A>T (hg19) ; chr2:g.43846198A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846198A>T , CM000664.2:g.43846198A>T	GRCh38
NC_000002.11:g.44073337A>T , CM000664.1:g.44073337A>T	GRCh37
NC_000002.10:g.43926841A>T	NCBI36
NG_008884.1:g.12235A>T
NG_008884.2:g.19257A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.209A>T MANE Select	ENSP00000272286.2:p.Gln70Leu
ENST00000643284.1:n.666A>T
ENST00000644611.1:c.221A>T	ENSP00000495423.1:p.Gln74Leu
ENST00000272286.2:c.209A>T	ENSP00000272286.2:p.Gln70Leu
NM_022437.2:c.209A>T	NP_071882.1:p.Gln70Leu
XM_005264483.2:c.209A>T	XP_005264540.1:p.Gln70Leu
XM_011533029.1:c.221A>T	XP_011531331.1:p.Gln74Leu
XM_011533030.1:c.221A>T	XP_011531332.1:p.Gln74Leu
XM_011533031.1:c.-8A>T	XP_011531333.1:n.-8A>T
XR_939707.1:n.711A>T
NM_001357321.1:c.209A>T	NP_001344250.1:p.Gln70Leu
XM_011533029.2:c.221A>T	XP_011531331.1:p.Gln74Leu
XM_011533030.2:c.221A>T	XP_011531332.1:p.Gln74Leu
XR_001738891.1:n.725A>T
XR_939707.2:n.725A>T
NM_022437.3:c.209A>T MANE Select	NP_071882.1:p.Gln70Leu
NM_001357321.2:c.209A>T	NP_001344250.1:p.Gln70Leu