Canonical Allele Identifier: CA394875585

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154919-T-C
• MyVariant Identifiers: chr16:g.16248776T>C (hg19) ; chr16:g.16154919T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154919T>C , CM000678.2:g.16154919T>C	GRCh38
NC_000016.9:g.16248776T>C , CM000678.1:g.16248776T>C	GRCh37
NC_000016.8:g.16156277T>C	NCBI36
NG_007558.2:g.73553A>G
NG_007558.3:g.73699A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.858A>G
ENST00000622290.5:c.*167A>G	ENSP00000483331.2:n.*167A>G
ENST00000205557.12:c.3995A>G MANE Select	ENSP00000205557.7:p.His1332Arg
ENST00000640696.1:c.809A>G	ENSP00000492197.1:p.His270Arg
ENST00000205557.11:c.3995A>G	ENSP00000205557.7:p.His1332Arg
ENST00000456970.6:c.3620A>G	ENSP00000405002.2:n.3620A>G
ENST00000576204.5:n.858A>G
ENST00000622290.4:c.*1204A>G	ENSP00000483331.1:n.*1204A>G
NM_001171.5:c.3995A>G	NP_001162.4:p.His1332Arg
XM_011522479.1:c.3962A>G	XP_011520781.1:p.His1321Arg
XM_011522480.1:c.3653A>G	XP_011520782.1:p.His1218Arg
XM_011522481.1:c.3653A>G	XP_011520783.1:p.His1218Arg
XR_933134.1:n.539-4862T>C
NM_001351800.1:c.3653A>G	NP_001338729.1:p.His1218Arg
NR_147784.1:n.3657A>G
XM_011522479.2:c.3962A>G	XP_011520781.1:p.His1321Arg
XM_011522481.3:c.3653A>G	XP_011520783.1:p.His1218Arg
XM_017023212.1:c.3827A>G	XP_016878701.1:p.His1276Arg
XM_024450261.1:c.4031A>G	XP_024306029.1:p.His1344Arg
NM_001171.6:c.3995A>G MANE Select	NP_001162.5:p.His1332Arg