Canonical Allele Identifier: CA394884888

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248730C>A (hg19) ; chr16:g.16154873C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154873C>A , CM000678.2:g.16154873C>A	GRCh38
NC_000016.9:g.16248730C>A , CM000678.1:g.16248730C>A	GRCh37
NC_000016.8:g.16156231C>A	NCBI36
NG_007558.2:g.73599G>T
NG_007558.3:g.73745G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.904G>T
ENST00000622290.5:c.*213G>T	ENSP00000483331.2:n.*213G>T
ENST00000205557.12:c.4041G>T MANE Select	ENSP00000205557.7:p.Gln1347His
ENST00000640696.1:c.855G>T	ENSP00000492197.1:p.Gln285His
ENST00000205557.11:c.4041G>T	ENSP00000205557.7:p.Gln1347His
ENST00000456970.6:c.3666G>T	ENSP00000405002.2:n.3666G>T
ENST00000576204.5:n.904G>T
ENST00000622290.4:c.*1250G>T	ENSP00000483331.1:n.*1250G>T
NM_001171.5:c.4041G>T	NP_001162.4:p.Gln1347His
XM_011522479.1:c.4008G>T	XP_011520781.1:p.Gln1336His
XM_011522480.1:c.3699G>T	XP_011520782.1:p.Gln1233His
XM_011522481.1:c.3699G>T	XP_011520783.1:p.Gln1233His
XR_933134.1:n.539-4908C>A
NM_001351800.1:c.3699G>T	NP_001338729.1:p.Gln1233His
NR_147784.1:n.3703G>T
XM_011522479.2:c.4008G>T	XP_011520781.1:p.Gln1336His
XM_011522481.3:c.3699G>T	XP_011520783.1:p.Gln1233His
XM_017023212.1:c.3873G>T	XP_016878701.1:p.Gln1291His
XM_024450261.1:c.4077G>T	XP_024306029.1:p.Gln1359His
NM_001171.6:c.4041G>T MANE Select	NP_001162.5:p.Gln1347His