Canonical Allele Identifier: CA394890407
Gene: ABCC6 HGNC NCBI

Linked Data

dbSNP Id: rs1420424274

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16198153C>G , CM000678.2:g.16198153C>G GRCh38
NC_000016.9:g.16292010C>G , CM000678.1:g.16292010C>G GRCh37
NC_000016.8:g.16199511C>G NCBI36
NG_007558.2:g.30319G>C
NG_007558.3:g.30465G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.1206G>C ENSP00000507301.1:p.Lys402Asn
ENST00000622290.5:c.1206G>C ENSP00000483331.2:p.Lys402Asn
ENST00000205557.12:c.1206G>C MANE Select ENSP00000205557.7:p.Lys402Asn
ENST00000205557.11:c.1206G>C ENSP00000205557.7:p.Lys402Asn
ENST00000456970.6:c.1206G>C ENSP00000405002.2:p.Lys402Asn
ENST00000574094.5:n.1302G>C
ENST00000622290.4:c.1206G>C ENSP00000483331.1:p.Lys402Asn
NM_001171.5:c.1206G>C NP_001162.4:p.Lys402Asn
XM_011522479.1:c.1206G>C XP_011520781.1:p.Lys402Asn
XM_011522480.1:c.864G>C XP_011520782.1:p.Lys288Asn
XM_011522481.1:c.864G>C XP_011520783.1:p.Lys288Asn
XM_011522482.1:c.1206G>C XP_011520784.1:p.Lys402Asn
XR_932836.1:n.1441G>C
XR_932837.1:n.1442G>C
XR_932838.1:n.1442G>C
NM_001351800.1:c.864G>C NP_001338729.1:p.Lys288Asn
NR_147784.1:n.1243G>C
XM_011522479.2:c.1206G>C XP_011520781.1:p.Lys402Asn
XM_011522481.3:c.864G>C XP_011520783.1:p.Lys288Asn
XM_011522482.3:c.1206G>C XP_011520784.1:p.Lys402Asn
XM_017023212.1:c.1206G>C XP_016878701.1:p.Lys402Asn
XM_017023214.1:c.1206G>C XP_016878703.1:p.Lys402Asn
XM_024450261.1:c.1242G>C XP_024306029.1:p.Lys414Asn
XR_932836.2:n.1387G>C
XR_932837.3:n.1387G>C
XR_932838.3:n.1387G>C
NM_001171.6:c.1206G>C MANE Select NP_001162.5:p.Lys402Asn