Canonical Allele Identifier: CA7925317

Gene: ABCC6

Linked Data

• dbSNP Id: rs764635677
• ExAC: 16:16248620 A / C
• gnomAD v2: 16-16248620-A-C
• gnomAD v3: 16-16154763-A-C
• gnomAD v4: 16-16154763-A-C
• MyVariant Identifiers: chr16:g.16248620A>C (hg19) ; chr16:g.16154763A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154763A>C , CM000678.2:g.16154763A>C	GRCh38
NC_000016.9:g.16248620A>C , CM000678.1:g.16248620A>C	GRCh37
NC_000016.8:g.16156121A>C	NCBI36
NG_007558.2:g.73709T>G
NG_007558.3:g.73855T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.936T>G
ENST00000622290.5:c.*245T>G	ENSP00000483331.2:n.*245T>G
ENST00000205557.12:c.4073T>G MANE Select	ENSP00000205557.7:p.Met1358Arg
ENST00000640696.1:c.887T>G	ENSP00000492197.1:p.Met296Arg
ENST00000205557.11:c.4073T>G	ENSP00000205557.7:p.Met1358Arg
ENST00000456970.6:c.3698T>G	ENSP00000405002.2:n.3698T>G
ENST00000576204.5:n.936T>G
ENST00000622290.4:c.*1282T>G	ENSP00000483331.1:n.*1282T>G
NM_001171.5:c.4073T>G	NP_001162.4:p.Met1358Arg
XM_011522479.1:c.4040T>G	XP_011520781.1:p.Met1347Arg
XM_011522480.1:c.3731T>G	XP_011520782.1:p.Met1244Arg
XM_011522481.1:c.3731T>G	XP_011520783.1:p.Met1244Arg
XR_933134.1:n.539-5018A>C
NM_001351800.1:c.3731T>G	NP_001338729.1:p.Met1244Arg
NR_147784.1:n.3735T>G
XM_011522479.2:c.4040T>G	XP_011520781.1:p.Met1347Arg
XM_011522481.3:c.3731T>G	XP_011520783.1:p.Met1244Arg
XM_017023212.1:c.3905T>G	XP_016878701.1:p.Met1302Arg
XM_024450261.1:c.4109T>G	XP_024306029.1:p.Met1370Arg
NM_001171.6:c.4073T>G MANE Select	NP_001162.5:p.Met1358Arg