Canonical Allele Identifier: CA394883723

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150608-T-C
• MyVariant Identifiers: chr16:g.16244465T>C (hg19) ; chr16:g.16150608T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150608T>C , CM000678.2:g.16150608T>C	GRCh38
NC_000016.9:g.16244465T>C , CM000678.1:g.16244465T>C	GRCh37
NC_000016.8:g.16151966T>C	NCBI36
NG_007558.2:g.77864A>G
NG_007558.3:g.78010A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*545A>G	ENSP00000483331.2:n.*545A>G
ENST00000205557.12:c.4373A>G MANE Select	ENSP00000205557.7:p.His1458Arg
ENST00000640696.1:c.1187A>G	ENSP00000492197.1:p.His396Arg
ENST00000205557.11:c.4373A>G	ENSP00000205557.7:p.His1458Arg
ENST00000456970.6:c.3998A>G	ENSP00000405002.2:n.3998A>G
ENST00000576204.5:n.1236A>G
ENST00000622290.4:c.*1582A>G	ENSP00000483331.1:n.*1582A>G
NM_001171.5:c.4373A>G	NP_001162.4:p.His1458Arg
XM_011522479.1:c.4340A>G	XP_011520781.1:p.His1447Arg
XM_011522480.1:c.4031A>G	XP_011520782.1:p.His1344Arg
XM_011522481.1:c.4031A>G	XP_011520783.1:p.His1344Arg
XR_933134.1:n.538+6318T>C
NM_001351800.1:c.4031A>G	NP_001338729.1:p.His1344Arg
NR_147784.1:n.4035A>G
XM_011522479.2:c.4340A>G	XP_011520781.1:p.His1447Arg
XM_011522481.3:c.4031A>G	XP_011520783.1:p.His1344Arg
XM_017023212.1:c.4205A>G	XP_016878701.1:p.His1402Arg
XM_024450261.1:c.4409A>G	XP_024306029.1:p.His1470Arg
NM_001171.6:c.4373A>G MANE Select	NP_001162.5:p.His1458Arg